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Results for "SHANK1"

Variant Events: 30

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
SHANK1     M20570chr19:
51165250-51165250
CTexonicPaternalnonsynonymous SNVNM_016148c.G6458Ap.R2153Q14.21-Guo2018 T
Wang2016 T
SHANK1     M12352chr19:
51165728-51165728
GCexonicMaternalnonsynonymous SNVNM_016148c.C5980Gp.L1994V9.802-Guo2018 T
Wang2016 T
SHANK1     M10051chr19:
51165851-51165851
GAexonicUnknown, Paternalnonsynonymous SNVNM_016148c.C5857Tp.P1953S10.72-Guo2018 T
Wang2016 T
SHANK1     M13455chr19:
51200908-51200908
GCexonicMaternalnonsynonymous SNVNM_016148c.C1875Gp.D625E13.33-Guo2018 T
Wang2016 T
SHANK1     M19541chr19:
51165632-51165632
CTexonicPaternalnonsynonymous SNVNM_016148c.G6076Ap.G2026R8.3762.0E-4Guo2018 T
Wang2016 T
SHANK1     M26799chr19:
51165505-51165505
GCexonicMaternalnonsynonymous SNVNM_016148c.C6203Gp.A2068G10.142.0E-4Wang2016 T
SHANK1     M8656chr19:
51207735-51207735
CTexonicPaternalnonsynonymous SNVNM_016148c.G1114Ap.D372N13.24.129E-5Wang2016 T
SHANK1     12591.p1chr19:
51169513-51169513
CTexonicDe novononsynonymous SNVNM_016148c.G5704Ap.G1902R1.9711.295E-5Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
SHANK1     HEN0213.p1chr19:
51215283-51215283
GAexonicMaternalnonsynonymous SNVNM_016148c.C881Tp.P294L17.38-Guo2018 T
SHANK1     F10976-1chr19:
51217138-51217138
CTexonicDe novononsynonymous SNVNM_016148c.G709Ap.G237R19.36-Fu2022 E
SHANK1     M08656chr19:
51207735-51207735
CTexonicPaternalnonsynonymous SNVNM_016148c.G1114Ap.D372N13.24.129E-5Guo2018 T
SHANK1     GX0002.p1chr19:
51170017-51170017
CTexonicMaternalnonsynonymous SNVNM_016148c.G5200Ap.G1734S9.324-Guo2018 T
SHANK1     M03363chr19:
51175349-51175349
CC/TexonicPaternal--Guo2018 T
SHANK1     M30340chr19:
51205805-51205805
CTexonicPaternalnonsynonymous SNVNM_016148c.G1666Ap.G556R17.418.958E-6Guo2018 T
SHANK1     M30363chr19:
51219609-51219609
CTexonicMaternalnonsynonymous SNVNM_016148c.G382Ap.D128N13.168.285E-6Guo2018 T
SHANK1     HN0040.p1chr19:
51165616-51165616
CTexonicPaternalnonsynonymous SNVNM_016148c.G6092Ap.G2031D9.575-Guo2018 T
SHANK1     M23710chr19:
51189517-51189517
GAexonicMaternalnonsynonymous SNVNM_016148c.C2554Tp.P852S13.17-Guo2018 T
Wang2016 T
SHANK1     HN0043.p1chr19:
51165736-51165736
CTexonicPaternalnonsynonymous SNVNM_016148c.G5972Ap.R1991Q12.165.349E-5Guo2018 T
SHANK1     M32001chr19:
51165728-51165728
GCexonicPaternalnonsynonymous SNVNM_016148c.C5980Gp.L1994V9.802-Guo2018 T
SHANK1     EGAN00001100990chr19:
51165870-51165870
TGexonicDe novononsynonymous SNVNM_016148c.A5838Cp.K1946N9.113-Satterstrom2020 E
SHANK1     HEN0243.p1chr19:
51217490-51217490
GAexonicPaternalnonsynonymous SNVNM_016148c.C589Tp.R197W14.122.479E-5Guo2018 T
SHANK1     M16168chr19:
51169881-51169881
GTexonicMaternalnonsynonymous SNVNM_016148c.C5336Ap.P1779H5.692-Guo2018 T
Wang2016 T
SHANK1     M26757chr19:
51165728-51165728
GCexonicPaternalnonsynonymous SNVNM_016148c.C5980Gp.L1994V9.802-Guo2018 T
Wang2016 T
SHANK1     388861chr19:
51205763-51205763
CTexonicUnknownnonsynonymous SNVNM_016148c.G1708Ap.E570K16.53-Stessman2017 T
SHANK1     M26951chr19:
51165505-51165505
GCexonicPaternalnonsynonymous SNVNM_016148c.C6203Gp.A2068G10.142.0E-4Wang2016 T
SHANK1     SSC05533chr19:
51169513-51169513
CTexonicDe novononsynonymous SNVNM_016148c.G5704Ap.G1902R1.9711.295E-5Fu2022 E
Lim2017 E
SHANK1     07C68969chr19:
51215331-51215331
CTexonicUnknownnonsynonymous SNVNM_016148c.G833Ap.R278H18.5-Stessman2017 T
SHANK1     M23139chr19:
51190000-51190000
CTsplicingDe novosplicing20.4-Guo2018 T
Stessman2017 T
Stessman2017 T
Wang2016 T
SHANK1     08C78393chr19:
51219781-51219781
GAintronicDe novo--Satterstrom2020 E
SHANK1     ASC_CA_173_Achr19:
51192193-51192193
GAexonicDe novononsynonymous SNVNM_016148c.C2080Tp.P694S16.1-Fu2022 E
Satterstrom2020 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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