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Results for "CNTNAP2"

Variant Events: 148

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
CNTNAP2     13069.p1chr7:
147595528-147595528
CGintronicDe novo--Turner2016 G
CNTNAP2     1-0487-003chr7:
146720427-146720427
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CNTNAP2     7-0273-003chr7:
147493754-147493754
AGintronicDe novo--Yuen2017 G
CNTNAP2     PN400434chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     1-0006-004chr7:
147402907-147402907
CAintronicDe novo--Yuen2017 G
CNTNAP2     AU4306302chr7:
146398475-146398475
AGintronicDe novo--Yuen2017 G
CNTNAP2     1-0465-003achr7:
146796293-146796293
AGintronicDe novo--Yuen2017 G
CNTNAP2     2-0300-003chr7:
148192241-148192241
GAintergenicDe novo--Yuen2017 G
CNTNAP2     7-0100-004chr7:
146932119-146932119
GAintronicDe novo--Yuen2017 G
CNTNAP2     1-0368-004chr7:
147490259-147490259
CTintronicDe novo--Yuen2017 G
CNTNAP2     AU3076302chr7:
148119145-148119145
CTintergenicDe novo--Yuen2017 G
CNTNAP2     P007chr7:
147914415-147914415
CTexonicInheritedstopgainNM_014141c.C3046Tp.R1016X40.08.239E-6Long2019 ET
CNTNAP2     PN400524chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     Li2017:23062chr7:
147815222-147815222
AGexonicUnknownnonsynonymous SNVNM_014141c.A2396Gp.N799S19.45-Li2017 T
CNTNAP2     Li2017:16283chr7:
147869357-147869357
TCexonicUnknownnonsynonymous SNVNM_014141c.T2797Cp.F933L33.0-Li2017 T
CNTNAP2     2-0273-003chr7:
147329307-147329308
ATAintronicDe novo--Yuen2017 G
CNTNAP2     Li2017:23082chr7:
146805341-146805341
CTexonicUnknownnonsynonymous SNVNM_014141c.C653Tp.T218M17.293.302E-5Li2017 T
CNTNAP2     7-0167-003chr7:
146304967-146304967
CAintronicDe novo--Yuen2017 G
CNTNAP2     2-1507-003chr7:
146943173-146943173
TCintronicDe novo--Yuen2017 G
CNTNAP2     AU011021chr7:
146834880-146834880
AGintronicDe novo--Yuen2017 G
CNTNAP2     1-0484-003chr7:
145915359-145915359
TCintronicDe novo--Yuen2017 G
CNTNAP2     2-0256-004chr7:
145903449-145903449
CTintronicDe novo--Yuen2017 G
CNTNAP2     2-1337-003chr7:
147324378-147324378
CTintronicDe novo--Yuen2016 G
Yuen2017 G
CNTNAP2     PN400568chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     2-1281-003chr7:
148123760-148123760
GAintergenicDe novo--Yuen2017 G
CNTNAP2     2-1459-003chr7:
148279649-148279649
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CNTNAP2     PN400412chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     PN400137chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     PN400249chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     1-0556-003chr7:
146556079-146556079
CTintronicDe novo--Yuen2017 G
CNTNAP2     2-1299-003chr7:
147439038-147439038
CAintronicDe novo--Yuen2017 G
CNTNAP2     AU066206chr7:
146371397-146371397
CTintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:1chr7:
146818176-146818176
GAexonicUnknownnonsynonymous SNVNM_014141c.G860Ap.S287N12.895.767E-5Murdoch2015 T
CNTNAP2     AN00090chr7:
146805310-146805310
CAexonicUnknownnonsynonymous SNVNM_014141c.C622Ap.L208M16.99-D’Gama2015 T
CNTNAP2     Murdoch2015:4chr7:
147815302-147815302
TGexonicUnknownnonsynonymous SNVNM_014141c.T2476Gp.Y826D24.4-Murdoch2015 T
CNTNAP2     Murdoch2015:5chr7:
147844726-147844726
CTexonicUnknownnonsynonymous SNVNM_014141c.C2698Tp.R900W25.43.296E-5Murdoch2015 T
CNTNAP2     Murdoch2015:2chr7:
146818140-146818140
AGexonicUnknownnonsynonymous SNVNM_014141c.A824Gp.H275R24.5-Murdoch2015 T
CNTNAP2     AN03345chr7:
146805322-146805322
AGexonicUnknownnonsynonymous SNVNM_014141c.A634Gp.I212V21.1-D’Gama2015 T
CNTNAP2     2-0149-004chr7:
146536632-146536632
TGintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:3chr7:
148080939-148080939
CTexonicUnknownnonsynonymous SNVNM_014141c.C3674Tp.S1225L15.368.598E-6Murdoch2015 T
CNTNAP2     Murdoch2015:8chr7:
147674986-147674986
AGexonicUnknownnonsynonymous SNVNM_014141c.A2288Gp.D763G21.81.647E-5Murdoch2015 T
CNTNAP2     Murdoch2015:9chr7:
146471423-146471423
CGexonicUnknownnonsynonymous SNVNM_014141c.C158Gp.S53C15.18.305E-6Murdoch2015 T
CNTNAP2     Murdoch2015:6chr7:
147914500-147914500
CTexonicUnknownnonsynonymous SNVNM_014141c.C3131Tp.P1044L4.6764.948E-5Murdoch2015 T
CNTNAP2     AU058105chr7:
146208335-146208335
TGintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:7chr7:
147964213-147964213
TCexonicUnknownnonsynonymous SNVNM_014141c.T3470Cp.V1157A21.4-Murdoch2015 T
CNTNAP2     2-1477-003chr7:
145938253-145938253
AGintronicDe novo--Yuen2016 G
Yuen2017 G
CNTNAP2     Murdoch2015:12chr7:
147600681-147600681
TCexonicUnknownnonsynonymous SNVNM_014141c.T2123Cp.V708A24.35.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:13chr7:
147926795-147926795
TCexonicUnknownnonsynonymous SNVNM_014141c.T3305Cp.V1102A9.547.0E-4Murdoch2015 T
CNTNAP2     AU4435301chr7:
146888860-146888860
ATintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:10chr7:
146536932-146536932
AGexonicUnknownnonsynonymous SNVNM_014141c.A338Gp.Y113C21.98.244E-5Murdoch2015 T
CNTNAP2     AU4356302chr7:
146656150-146656150
CTintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:11chr7:
146825806-146825806
TCexonicUnknownnonsynonymous SNVNM_014141c.T961Cp.F321L6.607-Murdoch2015 T
CNTNAP2     Murdoch2015:16chr7:
146741012-146741012
AGexonicUnknownnonsynonymous SNVNM_014141c.A416Gp.N139S16.341.648E-5Murdoch2015 T
CNTNAP2     Murdoch2015:17chr7:
147844685-147844685
CTexonicUnknownnonsynonymous SNVNM_014141c.C2657Tp.T886I12.65-Murdoch2015 T
CNTNAP2     Murdoch2015:14chr7:
147914449-147914449
GCexonicUnknownnonsynonymous SNVNM_014141c.G3080Cp.R1027T10.471.648E-5Murdoch2015 T
CNTNAP2     Murdoch2015:15chr7:
146825896-146825896
GAexonicUnknownnonsynonymous SNVNM_014141c.G1051Ap.A351T36.04.12E-5Murdoch2015 T
CNTNAP2     PN400350chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     Murdoch2015:20chr7:
146829473-146829473
AGexonicUnknownnonsynonymous SNVNM_014141c.A1220Gp.N407S9.129.0E-4Murdoch2015 T
CNTNAP2     AU4231301chr7:
146501606-146501606
AGintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:21chr7:
146829505-146829505
AGexonicUnknownnonsynonymous SNVNM_014141c.A1252Gp.N418D8.6668.254E-6Murdoch2015 T
CNTNAP2     2-0286-003chr7:
146085273-146085273
CTintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:18chr7:
148106525-148106525
TCexonicUnknownnonsynonymous SNVNM_014141c.T3758Cp.I1253T16.71.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:19chr7:
147600763-147600763
CGexonicUnknownnonsynonymous SNVNM_014141c.C2205Gp.N735K28.0-Murdoch2015 T
CNTNAP2     1-0272-004chr7:
147340738-147340738
GAintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:24chr7:
147844634-147844634
TCexonicUnknownnonsynonymous SNVNM_014141c.T2606Cp.I869T16.483.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:25chr7:
147844634-147844634
TCexonicUnknownnonsynonymous SNVNM_014141c.T2606Cp.I869T16.483.0E-4Murdoch2015 T
CNTNAP2     1-0756-005chr7:
146954511-146954511
GCintronicDe novo--Yuen2017 G
CNTNAP2     2-0278-003chr7:
146796410-146796410
TCintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:22chr7:
147600705-147600705
AGexonicUnknownnonsynonymous SNVNM_014141c.A2147Gp.Y716C14.632.486E-5Murdoch2015 T
CNTNAP2     1-0701-003chr7:
146162826-146162826
CTintronicDe novo--Yuen2017 G
CNTNAP2     1-0756-005chr7:
146007616-146007616
TCintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:23chr7:
147600749-147600749
GAexonicUnknownnonsynonymous SNVNM_014141c.G2191Ap.G731S29.78.433E-6Murdoch2015 T
CNTNAP2     AU3692301chr7:
146383772-146383772
TCintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:28chr7:
147926846-147926846
GAexonicUnknownnonsynonymous SNVNM_014141c.G3356Ap.R1119H23.52.473E-5Murdoch2015 T
CNTNAP2     1-0582-003chr7:
147334624-147334627
CTGTCTintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:29chr7:
147964128-147964128
GCexonicUnknownnonsynonymous SNVNM_014141c.G3385Cp.D1129H15.798.237E-6Murdoch2015 T
CNTNAP2     Murdoch2015:26chr7:
147844634-147844634
TCexonicUnknownnonsynonymous SNVNM_014141c.T2606Cp.I869T16.483.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:27chr7:
147844745-147844745
GAexonicUnknownnonsynonymous SNVNM_014141c.G2717Ap.R906H17.624.123E-5Murdoch2015 T
CNTNAP2     AU3122301chr7:
147388092-147388092
TCintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:32chr7:
148112545-148112545
CTexonicUnknownnonsynonymous SNVNM_014141c.C3833Tp.T1278I6.3672.484E-5Murdoch2015 T
CNTNAP2     Murdoch2015:33chr7:
146471465-146471465
AGexonicUnknownnonsynonymous SNVNM_014141c.A200Gp.K67R1.1711.733E-5Murdoch2015 T
CNTNAP2     Murdoch2015:30chr7:
148080944-148080944
GAexonicUnknownnonsynonymous SNVNM_014141c.G3679Ap.A1227T16.478.636E-6Murdoch2015 T
CNTNAP2     Murdoch2015:31chr7:
148106525-148106525
TCexonicUnknownnonsynonymous SNVNM_014141c.T3758Cp.I1253T16.71.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:36chr7:
146829419-146829419
GAexonicUnknownnonsynonymous SNVNM_014141c.G1166Ap.R389Q12.292.0E-4Murdoch2015 T
CNTNAP2     AU3782303chr7:
146796007-146796007
CAintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:37chr7:
146829500-146829500
CTexonicUnknownnonsynonymous SNVNM_014141c.C1247Tp.A416V12.250.0018Murdoch2015 T
CNTNAP2     Murdoch2015:34chr7:
146536934-146536934
CTexonicUnknownnonsynonymous SNVNM_014141c.C340Tp.R114W19.993.298E-5Murdoch2015 T
CNTNAP2     Murdoch2015:35chr7:
146536994-146536994
TGexonicUnknownnonsynonymous SNVNM_014141c.T400Gp.W134G14.212.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:40chr7:
147675079-147675079
AGexonicUnknownnonsynonymous SNVNM_014141c.A2381Gp.D794G25.18.254E-6Murdoch2015 T
CNTNAP2     1-0604-003chr7:
146091132-146091132
CTintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:41chr7:
147815275-147815275
GAexonicUnknownnonsynonymous SNVNM_014141c.G2449Ap.G817R29.03.295E-5Murdoch2015 T
CNTNAP2     Murdoch2015:38chr7:
147092805-147092805
GAexonicUnknownnonsynonymous SNVNM_014141c.G1603Ap.E535K13.832.474E-5Murdoch2015 T
CNTNAP2     AU057503chr7:
146042001-146042001
CAintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:39chr7:
147675066-147675066
CTexonicUnknownnonsynonymous SNVNM_014141c.C2368Tp.R790C25.11.0E-4Murdoch2015 T
CNTNAP2     AU057503chr7:
146370640-146370640
GCintronicDe novo--Yuen2017 G
CNTNAP2     Li2017:18494chr7:
147183035-147183035
CGexonicUnknownnonsynonymous SNVNM_014141c.C1679Gp.P560R20.7-Li2017 T
CNTNAP2     Murdoch2015:44chr7:
147964128-147964128
GCexonicUnknownnonsynonymous SNVNM_014141c.G3385Cp.D1129H15.798.237E-6Murdoch2015 T
CNTNAP2     PN400264chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     Murdoch2015:45chr7:
148080944-148080944
GAexonicUnknownnonsynonymous SNVNM_014141c.G3679Ap.A1227T16.478.636E-6Murdoch2015 T
CNTNAP2     Murdoch2015:42chr7:
147844595-147844595
TAexonicUnknownnonsynonymous SNVNM_014141c.T2567Ap.V856E24.6-Murdoch2015 T
CNTNAP2     1-0022-004chr7:
148105328-148105328
GAintronicDe novo--Yuen2017 G
CNTNAP2     Murdoch2015:43chr7:
147844634-147844634
TCexonicUnknownnonsynonymous SNVNM_014141c.T2606Cp.I869T16.483.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:48chr7:
148112631-148112631
GAexonicUnknownnonsynonymous SNVNM_014141c.G3919Ap.A1307T25.85.768E-5Murdoch2015 T
CNTNAP2     Murdoch2015:46chr7:
148106525-148106525
TCexonicUnknownnonsynonymous SNVNM_014141c.T3758Cp.I1253T16.71.0E-4Murdoch2015 T
CNTNAP2     Murdoch2015:47chr7:
148112545-148112545
CTexonicUnknownnonsynonymous SNVNM_014141c.C3833Tp.T1278I6.3672.484E-5Murdoch2015 T
CNTNAP2     A09019-1chr7:
146471417-146471417
CGexonicUnknownnonsynonymous SNVNM_014141c.C152Gp.S51C23.2-Li2017 T
CNTNAP2     5-0074-003chr7:
146301421-146301421
AGintronicDe novo--Yuen2017 G
CNTNAP2     PN400579chr7:
147336338-147336338
GAexonicInherited, Unknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
Leblond2019 E
CNTNAP2     2-1154-003chr7:
148273913-148273913
AGintergenicDe novo--Yuen2017 G
CNTNAP2     1-0591-003chr7:
147564863-147564863
GTintronicDe novo--Yuen2017 G
CNTNAP2     2-1605-003chr7:
147321475-147321475
TTTATAintronicDe novo--Yuen2017 G
CNTNAP2     1-0564-003chr7:
146524105-146524105
AGintronicDe novo--Yuen2017 G
CNTNAP2     SP0028519chr7:
147914427-147914427
CTexonicDe novostopgainNM_014141c.C3058Tp.Q1020X39.0-Feliciano2019 E
CNTNAP2     7-0102-003chr7:
146359965-146359965
CTintronicDe novo--Yuen2017 G
CNTNAP2     PN400543chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     AU3730301chr7:
147431366-147431366
CTintronicDe novo--Yuen2017 G
CNTNAP2     PN400581chr7:
147336338-147336338
GAexonicInherited, Unknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
Leblond2019 E
CNTNAP2     AU4239301chr7:
146481913-146481913
CTintronicDe novo--Yuen2017 G
CNTNAP2     AU4033305chr7:
148216448-148216448
GAintergenicDe novo--Yuen2017 G
CNTNAP2     2-1525-003chr7:
147467228-147467228
TCintronicDe novo--Yuen2017 G
CNTNAP2     A2chr7:
146295830-146295830
TCintronicDe novo--Wu2018 G
CNTNAP2     1-0046-003chr7:
146833088-146833088
GAintronicDe novo--Yuen2017 G
CNTNAP2     1-0465-003chr7:
146796293-146796293
AGintronicDe novo--Yuen2017 G
CNTNAP2     1-0022-003chr7:
148105328-148105328
GAintronicDe novo--Yuen2016 G
CNTNAP2     PN400518chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     PN400424chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     PN400267chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     PN400582chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     3-0437-000chr7:
146984568-146984568
CAintronicDe novo--Yuen2016 G
CNTNAP2     AU053503 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
CNTNAP2     1-0032-003chr7:
146388346-146388346
TCintronicDe novo--Yuen2017 G
CNTNAP2     PN400396chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     PN400533chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     2-1629-003chr7:
146900950-146900950
ATintronicDe novo--Yuen2017 G
CNTNAP2     2-1644-004chr7:
146267480-146267480
GAintronicDe novo--Yuen2017 G
CNTNAP2     PN400521chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     2-0109-003chr7:
146114411-146114411
AGintronicDe novo--Yuen2017 G
CNTNAP2     AU015903chr7:
145952674-145952674
TCintronicDe novo--Yuen2017 G
CNTNAP2     AU3889305chr7:
146577028-146577028
TGintronicDe novo--Yuen2017 G
CNTNAP2     AU026412chr7:
146290577-146290577
AGintronicDe novo--Yuen2017 G
CNTNAP2     PN400272chr7:
147336338-147336338
GAexonicUnknownnonsynonymous SNVNM_014141c.G2038Ap.E680K24.72.0E-4Leblond2019 E
CNTNAP2     2-1169-004chr7:
148249097-148249097
TCintergenicDe novo--Yuen2017 G
CNTNAP2     AU2072302chr7:
146595063-146595063
TCintronicDe novo--Yuen2017 G
CNTNAP2     1-0652-003chr7:
146354396-146354396
AGintronicDe novo--Yuen2017 G
CNTNAP2     AU1635302chr7:
147347156-147347156
CTintronicDe novo--Yuen2017 G
CNTNAP2     1-0473-003chr7:
147413074-147413075
CTCintronicDe novo--Yuen2017 G
CNTNAP2     1-0841-003chr7:
146667283-146667283
AGintronicDe novo--Yuen2017 G
CNTNAP2     548chr7:
146536803-146536803
GCexonicPaternalnonsynonymous SNVNM_014141c.G209Cp.G70A26.48.27E-6Wen2017 E
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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