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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		GAexonicPaternal, Unknownnonsynonymous 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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