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Results for "ITPR1"

Variant Events: 102

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
ITPR1     AU4379301chr3:
4841774-4841774
AGintronicDe novo--Yuen2017 G
ITPR1     M10162chr3:
4722295-4722295
GAexonicUnknownnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.G2981A
c.G2954A
c.G2999A
p.R994Q
p.R985Q
p.R1000Q
16.57-Wang2016 T
ITPR1     1-0495-003chr3:
4579033-4579033
AGintronicDe novo--Yuen2017 G
ITPR1     2-0012-004chr3:
4720084-4720084
CTintronicDe novo--Yuen2017 G
ITPR1     2-1384-003chr3:
4584713-4584714
TGTGGintronicDe novo--Yuen2017 G
ITPR1     3D633chr3:
4852903-4852903
ACintronicDe novo--Satterstrom2020 E
ITPR1     1-0261-004chr3:
4928175-4928178
TAACTintergenicDe novo--Yuen2017 G
ITPR1     M13392chr3:
4562755-4562755
AGexonicUnknownnonsynonymous SNVNM_001099952
NM_001168272
NM_002222
c.A140G
c.A140G
c.A140G
p.N47S
p.N47S
p.N47S
10.069.206E-5Wang2016 T
ITPR1     7-0167-003chr3:
4649788-4649788
CTintronicDe novo--Yuen2017 G
ITPR1     AU3861302chr3:
4730286-4730286
CTexonicDe novosynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C3765T
c.C3738T
c.C3783T
p.N1255N
p.N1246N
p.N1261N
--Yuen2017 G
ITPR1     AU3840302chr3:
4839515-4839521
ATTTTTTATTTTTintronicDe novo--Yuen2017 G
ITPR1     1-0214-003chr3:
4851704-4851704
CTintronicDe novo--Yuen2017 G
ITPR1     M12476chr3:
4558240-4558240
CTexonicMaternalnonsynonymous SNVNM_001099952
NM_001168272
NM_002222
c.C65T
c.C65T
c.C65T
p.S22L
p.S22L
p.S22L
23.5-Guo2018 T
Wang2016 T
ITPR1     M23717chr3:
4741615-4741615
CTexonicMaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C4481T
c.C4454T
c.C4499T
p.T1494M
p.T1485M
p.T1500M
27.6-Guo2018 T
Wang2016 T
ITPR1     AU1909304chr3:
4650680-4650680
GAintronicDe novo--Yuen2017 G
ITPR1     AU017304chr3:
4568644-4568644
TCintronicDe novo--Yuen2017 G
ITPR1     1-0441-003chr3:
4905954-4905954
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ITPR1     1-0043-003chr3:
4934703-4934703
GCintergenicDe novo--Yuen2017 G
ITPR1     M01663chr3:
4716905-4716905
GA/GexonicMaternal--Guo2018 T
ITPR1     M16165chr3:
4562755-4562755
AGexonicPaternalnonsynonymous SNVNM_001099952
NM_001168272
NM_002222
c.A140G
c.A140G
c.A140G
p.N47S
p.N47S
p.N47S
10.069.206E-5Wang2016 T
ITPR1     M08485chr3:
4716819-4716819
CTexonicMaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C2621T
c.C2621T
c.C2666T
p.T874I
p.T874I
p.T889I
27.2-Guo2018 T
ITPR1     3-0469-000chr3:
4740644-4740644
AGintronicDe novo--Yuen2017 G
ITPR1     M08784chr3:
4847913-4847913
ATexonicMaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.A7045T
c.A7090T
c.A7189T
p.M2349L
p.M2364L
p.M2397L
3.903-Guo2018 T
ITPR1     M26820chr3:
4842119-4842119
GCexonicMaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.G6753C
c.G6798C
c.G6897C
p.E2251D
p.E2266D
p.E2299D
9.641.656E-5Guo2018 T
ITPR1     M19780chr3:
4810254-4810254
GAexonicPaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.G5596A
c.G5641A
c.G5740A
p.A1866T
p.A1881T
p.A1914T
7.1952.0E-4Guo2018 T
Wang2016 T
ITPR1     M20272chr3:
4704840-4704840
CC/GexonicMaternal--Guo2018 T
ITPR1     M21706chr3:
4836866-4836866
GAexonicPaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.G6737A
c.G6782A
c.G6881A
p.R2246Q
p.R2261Q
p.R2294Q
9.469-Guo2018 T
Wang2016 T
ITPR1     M04443chr3:
4695565-4695565
CC/TexonicMaternal--Guo2018 T
ITPR1     M12447 Complex Event; expand row to view variants  Maternalnonsynonymous SNV, frameshift insertionNM_002222
NM_001099952
NM_001168272
NM_002222
NM_001099952
NM_001168272
c.7839_7840insGTGA
c.7884_7885insGTGA
c.7983_7984insGTGA
c.G7839T
c.G7884T
c.G7983T
p.K2613fs
p.K2628fs
p.K2661fs
p.K2613N
p.K2628N
p.K2661N
27.61.738E-5Guo2018 T
Wang2016 T
ITPR1     1-0099-003chr3:
4674209-4674209
GAintronicDe novo--Yuen2017 G
ITPR1     AU4356302chr3:
4631005-4631005
GAintronicDe novo--Yuen2017 G
ITPR1     AU2951302chr3:
4578191-4578191
TCintronicDe novo--Yuen2017 G
ITPR1     1721001chr3:
4842228-4842228
CTexonicDe novostopgainNM_002222
NM_001099952
NM_001168272
c.C6862T
c.C6907T
c.C7006T
p.R2288X
p.R2303X
p.R2336X
50.08.28E-6Satterstrom2020 E
ITPR1     JS0059.p1chr3:
4687341-4687341
GAexonicPaternalnonsynonymous SNVNM_001099952
NM_001168272
NM_002222
c.G784A
c.G784A
c.G784A
p.V262I
p.V262I
p.V262I
24.8-Guo2018 T
ITPR1     M8506chr3:
4767233-4767233
CAexonicUnknownnonsynonymous SNVNM_001168272c.C5095Ap.P1699T10.845.116E-5Wang2016 T
ITPR1     M20736chr3:
4776935-4776935
ATexonicMaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.A5252T
c.A5297T
c.A5396T
p.N1751I
p.N1766I
p.N1799I
20.7-Guo2018 T
Wang2016 T
ITPR1     7-0256-003chr3:
4683087-4683087
GAintronicDe novo--Yuen2017 G
ITPR1     GX0283.p1chr3:
4732872-4732872
CGexonicPaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C3828G
c.C3801G
c.C3846G
p.F1276L
p.F1267L
p.F1282L
12.794.443E-5Guo2018 T
ITPR1     M21701chr3:
4776967-4776967
ATexonicPaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.A5284T
c.A5329T
c.A5428T
p.S1762C
p.S1777C
p.S1810C
29.72.0E-4Guo2018 T
Wang2016 T
ITPR1     M32029chr3:
4856118-4856118
GAexonicPaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.G7384A
c.G7429A
c.G7528A
p.A2462T
p.A2477T
p.A2510T
11.828.281E-6Guo2018 T
ITPR1     M23789chr3:
4776967-4776967
ATexonicPaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.A5284T
c.A5329T
c.A5428T
p.S1762C
p.S1777C
p.S1810C
29.72.0E-4Guo2018 T
Wang2016 T
ITPR1     GX0325.p1chr3:
4747952-4747952
CTexonicPaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C4714T
c.C4687T
c.C4732T
p.R1572W
p.R1563W
p.R1578W
13.581.659E-5Guo2018 T
ITPR1     1-0139-005chr3:
4918488-4918488
GTintergenicDe novo--Yuen2017 G
ITPR1     211-5542-3chr3:
4744576-4744576
GTexonicUnknownnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.G4554T
c.G4527T
c.G4572T
p.W1518C
p.W1509C
p.W1524C
21.2-Stessman2017 T
ITPR1     M30790chr3:
4856128-4856128
CTexonicPaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.C7394T
c.C7439T
c.C7538T
p.T2465M
p.T2480M
p.T2513M
7.1733.312E-5Guo2018 T
ITPR1     HN0117.p1chr3:
4856118-4856118
GAexonicPaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.G7384A
c.G7429A
c.G7528A
p.A2462T
p.A2477T
p.A2510T
11.828.281E-6Guo2018 T
ITPR1     PN400113chr3:
4714914-4714914
CTexonicUnknownnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C2254T
c.C2254T
c.C2299T
p.R752C
p.R752C
p.R767C
18.734.146E-5Leblond2019 E
ITPR1     PN400480chr3:
4714914-4714914
CTexonicUnknownnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C2254T
c.C2254T
c.C2299T
p.R752C
p.R752C
p.R767C
18.734.146E-5Leblond2019 E
ITPR1     M20967chr3:
4693880-4693880
CTexonicPaternalnonsynonymous SNVNM_001099952
NM_001168272
NM_002222
c.C929T
c.C929T
c.C929T
p.T310M
p.T310M
p.T310M
27.34.033E-5Guo2018 T
Wang2016 T
ITPR1     M13338chr3:
4747976-4747976
CTexonicPaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C4738T
c.C4711T
c.C4756T
p.R1580C
p.R1571C
p.R1586C
15.636.652E-5Guo2018 T
Wang2016 T
ITPR1     08C78818chr3:
4774764-4774764
GCintronicDe novo--Satterstrom2020 E
ITPR1     M8067chr3:
4768829-4768829
CTexonicPaternalnonsynonymous SNVNM_001168272c.C5147Tp.P1716L21.6-Wang2016 T
ITPR1     M20748chr3:
4808230-4808230
GCexonicMaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.G5372C
c.G5417C
c.G5516C
p.R1791P
p.R1806P
p.R1839P
26.3-Guo2018 T
Wang2016 T
ITPR1     1-0079-003chr3:
4686636-4686636
TCintronicDe novo--Yuen2017 G
ITPR1     12759.p1chr3:
4699938-4699938
GAexonicDe novononsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.G1082A
c.G1082A
c.G1127A
p.R361H
p.R361H
p.R376H
18.91-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ITPR1     2-1177-003chr3:
4800033-4800033
AGintronicDe novo--Yuen2016 G
Yuen2017 G
ITPR1     11194.p1chr3:
4772374-4772374
GTintronicDe novo--Turner2016 G
ITPR1     GX0523.p1chr3:
4732872-4732872
CGexonicMaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C3828G
c.C3801G
c.C3846G
p.F1276L
p.F1267L
p.F1282L
12.794.443E-5Guo2018 T
ITPR1     GX0372.p1chr3:
4725426-4725426
GAexonicMaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.G3397A
c.G3370A
c.G3415A
p.G1133S
p.G1124S
p.G1139S
14.765.809E-5Guo2018 T
ITPR1     HN0037.p1chr3:
4767243-4767243
CTexonicMaternalnonsynonymous SNVNM_001168272c.C5105Tp.P1702L13.143.407E-5Guo2018 T
ITPR1     1-0261-003chr3:
4928175-4928178
TAACTintergenicDe novo--Yuen2017 G
ITPR1     GX0307.p1chr3:
4732872-4732872
CGexonicMaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C3828G
c.C3801G
c.C3846G
p.F1276L
p.F1267L
p.F1282L
12.794.443E-5Guo2018 T
ITPR1     2-0006-004chr3:
4820852-4820852
GAintronicDe novo--Yuen2017 G
ITPR1     HN0005.p1chr3:
4669539-4669539
GAexonicMaternalnonsynonymous SNVNM_001099952
NM_001168272
NM_002222
c.G256A
c.G256A
c.G256A
p.A86T
p.A86T
p.A86T
11.657.49E-5Guo2018 T
ITPR1     M8881chr3:
4716870-4716870
CGexonicPaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C2672G
c.C2672G
c.C2717G
p.P891R
p.P891R
p.P906R
14.78.285E-6Wang2016 T
ITPR1     M31956chr3:
4716870-4716870
CGexonicMaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C2672G
c.C2672G
c.C2717G
p.P891R
p.P891R
p.P906R
14.78.285E-6Guo2018 T
ITPR1     M17551chr3:
4836846-4836846
CGexonicPaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.C6717G
c.C6762G
c.C6861G
p.F2239L
p.F2254L
p.F2287L
21.2-Guo2018 T
Wang2016 T
ITPR1     M20277chr3:
4712442-4712442
GTexonicMaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.G1991T
c.G1991T
c.G2036T
p.G664V
p.G664V
p.G679V
5.437-Guo2018 T
Wang2016 T
ITPR1     GX0284.p1chr3:
4714914-4714914
CTexonicMaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C2254T
c.C2254T
c.C2299T
p.R752C
p.R752C
p.R767C
18.734.146E-5Guo2018 T
ITPR1     2-0142-003chr3:
4650642-4650642
CTintronicDe novo--Yuen2017 G
ITPR1     M31959chr3:
4706906-4706906
GAexonicPaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.G1594A
c.G1594A
c.G1639A
p.A532T
p.A532T
p.A547T
34.08.282E-6Guo2018 T
ITPR1     2-1644-004chr3:
4771763-4771763
GTintronicDe novo--Yuen2017 G
ITPR1     GX0219.p1chr3:
4810270-4810270
CAexonicMaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.C5612A
c.C5657A
c.C5756A
p.A1871D
p.A1886D
p.A1919D
25.48.302E-6Guo2018 T
ITPR1     GX0219.p2chr3:
4810270-4810270
CAexonicMaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.C5612A
c.C5657A
c.C5756A
p.A1871D
p.A1886D
p.A1919D
25.48.302E-6Guo2018 T
ITPR1     HN0121.p1chr3:
4842276-4842276
GAexonicMaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272
c.G6910A
c.G6955A
c.G7054A
p.A2304T
p.A2319T
p.A2352T
16.918.0E-4Guo2018 T
ITPR1     AU04404chr3:
4703923-4703923
GCexonicDe novononsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.G1364C
c.G1364C
c.G1409C
p.R455T
p.R455T
p.R470T
23.4-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
ITPR1     AU2951303chr3:
4578191-4578191
TCintronicDe novo--Yuen2017 G
ITPR1     X8G5Tchr3:
4693861-4693861
CTexonicUnknownnonsynonymous SNVNM_001099952
NM_001168272
NM_002222
c.C910T
c.C910T
c.C910T
p.R304C
p.R304C
p.R304C
19.23-Stessman2017 T
ITPR1     M14999chr3:
4752093-4752093
GAexonicDe novononsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.G4882A
c.G4855A
c.G4900A
p.E1628K
p.E1619K
p.E1634K
36.0-Guo2018 T
Stessman2017 T
Wang2016 T
ITPR1     AU3051303chr3:
4749873-4749873
GAintronicDe novo--Yuen2017 G
ITPR1     PN400190chr3:
4714914-4714914
CTexonicUnknownnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C2254T
c.C2254T
c.C2299T
p.R752C
p.R752C
p.R767C
18.734.146E-5Leblond2019 E
ITPR1     PN400521chr3:
4714914-4714914
CTexonicUnknownnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C2254T
c.C2254T
c.C2299T
p.R752C
p.R752C
p.R767C
18.734.146E-5Leblond2019 E
ITPR1     229-09-111414chr3:
4718357-4718357
CTexonicDe novononsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C2794T
c.C2767T
c.C2812T
p.R932W
p.R923W
p.R938W
17.488.386E-6Satterstrom2020 E
ITPR1     M26902chr3:
4718405-4718405
GAexonicMaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.G2842A
c.G2815A
c.G2860A
p.G948S
p.G939S
p.G954S
11.74-Guo2018 T
Wang2016 T
ITPR1     M19738chr3:
4562755-4562755
AGexonicMaternalnonsynonymous SNVNM_001099952
NM_001168272
NM_002222
c.A140G
c.A140G
c.A140G
p.N47S
p.N47S
p.N47S
10.069.206E-5Wang2016 T
ITPR1     M12516chr3:
4714966-4714966
GAexonicMaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.G2306A
c.G2306A
c.G2351A
p.R769H
p.R769H
p.R784H
15.838.287E-6Guo2018 T
Wang2016 T
ITPR1     2-1562-003chr3:
4920062-4920062
CTintergenicDe novo--Yuen2017 G
ITPR1     1-0652-003chr3:
4565404-4565404
GAintronicDe novo--Yuen2017 G
ITPR1     PN400584chr3:
4714914-4714914
CTexonicUnknownnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C2254T
c.C2254T
c.C2299T
p.R752C
p.R752C
p.R767C
18.734.146E-5Leblond2019 E
ITPR1     A32chr3:
4654299-4654299
GTintronicDe novo--Wu2018 G
ITPR1     AU4314302chr3:
4802964-4802964
CTintronicDe novo--Yuen2017 G
ITPR1     M08787chr3:
4715070-4715070
GAexonicPaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.G2410A
c.G2410A
c.G2455A
p.D804N
p.D804N
p.D819N
27.13.492E-5Guo2018 T
ITPR1     M09118chr3:
4712432-4712432
GC/GexonicPaternal--Guo2018 T
ITPR1     M13346chr3:
4716926-4716926
CAexonicPaternalnonsynonymous SNVNM_001168272c.C2728Ap.L910M13.17-Guo2018 T
ITPR1     AU3712302chr3:
4918996-4918996
TGintergenicDe novo--Yuen2017 G
ITPR1     M08881chr3:
4716870-4716870
CGexonicPaternalnonsynonymous SNVNM_001168272
NM_002222
NM_001099952
c.C2672G
c.C2672G
c.C2717G
p.P891R
p.P891R
p.P906R
14.78.285E-6Guo2018 T
ITPR1     2-1431-003chr3:
4555643-4555643
TCintronicDe novo--Yuen2017 G
ITPR1     2-1364-003chr3:
4893098-4893098
GAintergenicDe novo--Yuen2017 G
ITPR1     AU3712302chr3:
4919493-4919493
GAintergenicDe novo--Yuen2017 G
ITPR1     M08704chr3:
4767236-4767236
CTexonicPaternalnonsynonymous SNVNM_001168272c.C5098Tp.P1700S5.542-Guo2018 T
ITPR1     M01823chr3:
4718441-4718441
AA/GexonicPaternal--Guo2018 T
ITPR1     M08067chr3:
4768829-4768829
CTexonicPaternalnonsynonymous SNVNM_001168272c.C5147Tp.P1716L21.6-Guo2018 T
Source Variant Information

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Paper Information
Title
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Technology
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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.
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