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Results for "SHANK3"

Variant Events: 64

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
SHANK3     217-14410-5190chr22:
51159850-51159850
AGexonicDe novononsynonymous SNVNM_033517c.A3547Gp.S1183G17.79-O’Roak2014 T
SHANK3     14470.p1chr22:
51159932-51159932
TTGexonicDe novoframeshift insertionNM_033517c.3630dupGp.L1210fs-6.0E-4O’Roak2014 T
SHANK3     2-1455-003 Complex Event; expand row to view variants  De novoframeshift insertionNM_033517
NM_033517
c.4491dupG
c.4495dupG
p.L1497fs
p.E1499fs
--Yuen2016 G
Yuen2017 G
SHANK3     2-1644-004chr22:
51132965-51132965
GAintronicDe novo--Yuen2017 G
SHANK3     PN400416chr22:
51135697-51135697
TTGintronicUnknown-0.0098Leblond2019 E
SHANK3     AU009805chr22:
51159131-51159132
AGAexonicDe novoframeshift deletionNM_033517c.2829delGp.Q943fs--Yuen2017 G
SHANK3     3-0107-000chr22:
51121806-51121808
CAGCexonicDe novoframeshift deletionNM_033517c.925_926delp.R309fs--Yuen2015 G
SHANK3     AU056603chr22:
51159722-51159722
GGGexonicDe novoframeshift insertionNM_033517c.3419dupGp.G1140fs--Zhou2019 T
SHANK3     Husson2020:296chr22:
51159068-51159069
CCCexonicframeshift deletionNM_033517c.2766delCp.A922fs--Husson2020 E
SHANK3     F5252-1chr22:
51160012-51160025
CTGCCCAGCCCCCGCexonicDe novoframeshift deletionNM_033517c.3710_3722delp.L1237fs--Montenegro2019 E
SHANK3     G01-GEA-133-HIchr22:
51160024-51160024
CGexonicDe novononsynonymous SNVNM_033517c.C3721Gp.R1241G8.009-Lim2017 E
Satterstrom2020 E
SHANK3     AU035703chr22:
51159977-51159977
CCCexonicDe novoframeshift insertionNM_033517c.3674dupCp.P1225fs--Zhou2019 T
SHANK3     7902-01-002chr22:
51160837-51160839
GCCGexonicDe novoframeshift deletionNM_033517c.4535_4536delp.A1512fs--Satterstrom2020 E
SHANK3     Husson2020:353chr22:
51159715-51159715
GGGexonicframeshift insertionNM_033517c.3412dupGp.E1138fs--Husson2020 E
SHANK3     AU013503chr22:
51159977-51159977
CCCexonicUnknownframeshift insertionNM_033517c.3674dupCp.P1225fs--Zhou2019 T
SHANK3     Husson2020:377chr22:
51159390-51159391
TCTexonicframeshift deletionNM_033517c.3088delCp.L1030fs--Husson2020 E
SHANK3     iHART2067chr22:
51143237-51143237
GAexonicDe novononsynonymous SNVNM_033517c.G1801Ap.V601M15.84-Ruzzo2019 G
SHANK3     10C110253chr22:
51137146-51137146
GAexonicDe novostopgainNM_033517c.G1485Ap.W495X38.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SHANK3     Schaaf2011:39chr22:
51143462-51143462
GAexonicUnknownnonsynonymous SNVNM_033517c.G1925Ap.R642H11.743.318E-5Schaaf2011 T
SHANK3     CC1093.201chr22:
51160013-51160026
TGCCCAGCCCCCGGTexonicDe novoframeshift deletionNM_033517c.3711_3723delp.L1237fs--Satterstrom2020 E
SHANK3     Schaaf2011:42chr22:
51160154-51160154
GAexonicUnknownnonsynonymous SNVNM_033517c.G3851Ap.R1284K13.68.0E-4Schaaf2011 T
SHANK3     Schaaf2011:43chr22:
51160231-51160231
GAexonicUnknownnonsynonymous SNVNM_033517c.G3928Ap.A1310T0.2181.0E-4Schaaf2011 T
SHANK3     Schaaf2011:40chr22:
51159884-51159884
GAexonicUnknownnonsynonymous SNVNM_033517c.G3581Ap.G1194D18.77-Schaaf2011 T
SHANK3     Schaaf2011:41chr22:
51160018-51160018
ATexonicUnknownnonsynonymous SNVNM_033517c.A3715Tp.S1239C10.13-Schaaf2011 T
SHANK3     Schaaf2011:46chr22:
51160493-51160493
CTexonicUnknownnonsynonymous SNVNM_033517c.C4190Tp.P1397L20.9-Schaaf2011 T
SHANK3     Schaaf2011:47chr22:
51160540-51160540
GAexonicUnknownnonsynonymous SNVNM_033517c.G4237Ap.V1413M19.4-Schaaf2011 T
SHANK3     Schaaf2011:44chr22:
51160259-51160259
TGexonicUnknownnonsynonymous SNVNM_033517c.T3956Gp.V1319G4.6418.0E-4Schaaf2011 T
SHANK3     Schaaf2011:45chr22:
51160394-51160394
CTexonicUnknownnonsynonymous SNVNM_033517c.C4091Tp.T1364M19.53-Schaaf2011 T
SHANK3     Schaaf2011:50chr22:
51169259-51169259
CTexonicUnknownnonsynonymous SNVNM_033517c.C4673Tp.A1558V12.15-Schaaf2011 T
SHANK3     Schaaf2011:51chr22:
51169364-51169364
CTexonicUnknownnonsynonymous SNVNM_033517c.C4778Tp.T1593I14.6-Schaaf2011 T
SHANK3     Schaaf2011:48chr22:
51169207-51169207
CTexonicUnknownnonsynonymous SNVNM_033517c.C4621Tp.P1541S15.68-Schaaf2011 T
SHANK3     Schaaf2011:49chr22:
51169241-51169241
GTexonicUnknownnonsynonymous SNVNM_033517c.G4655Tp.S1552I16.49-Schaaf2011 T
SHANK3     2-1184-003chr22:
51121926-51121926
CGintronicDe novo--Yuen2016 G
Yuen2017 G
SHANK3     Schaaf2011:54chr22:
51169463-51169463
CTexonicUnknownnonsynonymous SNVNM_033517c.C4877Tp.S1626L9.874-Schaaf2011 T
SHANK3     AU3122301chr22:
51134816-51134816
TCintronicDe novo--Yuen2017 G
SHANK3     Schaaf2011:55chr22:
51169480-51169480
GAexonicUnknownnonsynonymous SNVNM_033517c.G4894Ap.A1632T0.763-Schaaf2011 T
SHANK3     Schaaf2011:52chr22:
51169442-51169442
GAexonicUnknownnonsynonymous SNVNM_033517c.G4856Ap.R1619H13.87-Schaaf2011 T
SHANK3     Schaaf2011:53chr22:
51169459-51169459
CTexonicUnknownnonsynonymous SNVNM_033517c.C4873Tp.P1625S12.58-Schaaf2011 T
SHANK3     Schaaf2011:58chr22:
51169508-51169508
GAexonicUnknownnonsynonymous SNVNM_033517c.G4922Ap.G1641D16.35-Schaaf2011 T
SHANK3     7-0123-003chr22:
51153476-51153476
GAsplicingDe novosplicing12.65-Yuen2017 G
SHANK3     Schaaf2011:56chr22:
51169499-51169499
GAexonicUnknownnonsynonymous SNVNM_033517c.G4913Ap.G1638D10.65-Schaaf2011 T
SHANK3     Schaaf2011:57chr22:
51169504-51169504
CAexonicUnknownnonsynonymous SNVNM_033517c.C4918Ap.P1640T14.470.0013Schaaf2011 T
SHANK3     PN400285chr22:
51135697-51135697
TTGintronicUnknown-0.0098Leblond2019 E
SHANK3     2-1195-003chr22:
51120928-51120928
TCintronicDe novo--Yuen2017 G
SHANK3     80001101154chr22:
51143435-51143435
TGexonicDe novononsynonymous SNVNM_033517c.T1898Gp.V633G22.8-Satterstrom2020 E
SHANK3     ASD-685chr22:
51159933-51159933
GGGexonicDe novoframeshift insertionNM_033517c.3630dupGp.L1210fs--Du2018 E
SHANK3     G01-GEA-71-HIchr22:
51159932-51159932
TTGexonicDe novoframeshift insertionNM_033517c.3630dupGp.L1210fs-6.0E-4Satterstrom2020 E
SHANK3     AU3154301chr22:
51145380-51145384
ATGTGATGTGTGintronicDe novo--Yuen2017 G
SHANK3     08C72791chr22:
51169147-51169147
AGsplicingDe novosplicing21.0-Satterstrom2020 E
SHANK3     20-0421654-08chr22:
51117094-51117094
CGexonicDe novononsynonymous SNVNM_033517c.C421Gp.P141A23.7-Satterstrom2020 E
SHANK3     F10024-1chr22:
51133516-51133516
TTGGGGGGGGGintronicDe novo--Satterstrom2020 E
SHANK3     Mahjani2021:100chr22:
51137191-51137191
CAexonicstopgainNM_033517c.C1530Ap.C510X37.0-Mahjani2021 E
SHANK3     1-0007-003chr22:
51121844-51121844
AGexonicDe novononsynonymous SNVNM_033517c.A962Gp.Q321R24.5-Yuen2017 G
SHANK3     PN400128chr22:
51135697-51135697
TTGintronicUnknown-0.0098Leblond2019 E
SHANK3     SP0001367chr22:
51160866-51160866
GTsplicingDe novosplicing20.9-Feliciano2019 E
SHANK3     SP0051409chr22:
51159932-51159932
TTGexonicDe novoframeshift insertionNM_033517c.3630dupGp.L1210fs-6.0E-4Feliciano2019 E
SHANK3     F10163-1chr22:
51117840-51117840
GAexonicDe novononsynonymous SNVNM_033517c.G869Ap.C290Y21.3-Satterstrom2020 E
SHANK3     PN400396chr22:
51135697-51135697
TTGintronicUnknown-0.0098Leblond2019 E
SHANK3     Valentino2021:32chr22:
51153476-51153476
GAsplicingDe novosplicing12.65-Valentino2021 E
SHANK3     Valentino2021:31chr22:
51158931-51158931
CCGCexonicDe novoframeshift insertionNM_033517c.2628_2629insGCp.R876fs--Valentino2021 E
SHANK3     09C89168chr22:
51159850-51159850
AGexonicDe novononsynonymous SNVNM_033517c.A3547Gp.S1183G17.79-Satterstrom2020 E
SHANK3     PN400144chr22:
51135697-51135697
TTGintronicUnknown-0.0098Leblond2019 E
SHANK3     7-0141-003chr22:
51117976-51117976
CCAGGintronicDe novo--Yuen2017 G
SHANK3     PN400495chr22:
51135697-51135697
TTGintronicUnknown-0.0098Leblond2019 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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