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Results for "STAB1"

Variant Events: 19

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
STAB1     Li2017:17460chr3:
52550182-52550182
TGexonicUnknownnonsynonymous SNVNM_015136c.T4072Gp.C1358G24.5-Li2017 T
STAB1     1-0763-004chr3:
52552087-52552087
TCintronicDe novo--Yuen2017 G
STAB1     Li2017:19658chr3:
52557455-52557457
CCACexonicUnknownframeshift deletionNM_015136c.7154_7155delp.P2385fs--Li2017 T
STAB1     1762_14auchr3:
52555618-52555618
GAexonicDe novononsynonymous SNVNM_015136c.G6065Ap.R2022H11.382.594E-5Satterstrom2020 E
STAB1     A11047-1chr3:
52557058-52557058
CTexonicUnknownstopgainNM_015136c.C6928Tp.R2310X46.01.82E-5Li2017 T
STAB1     A14chr3:
52548772-52548772
CAexonicDe novostopgainNM_015136c.C3734Ap.S1245X40.0-Wu2018 G
STAB1     A1chr3:
52557058-52557058
CTexonicDe novostopgainNM_015136c.C6928Tp.R2310X46.01.82E-5Wu2018 G
STAB1     2-0143-004chr3:
52540643-52540643
GAintronicDe novo--Yuen2017 G
STAB1     AU4152303chr3:
52556865-52556865
GAexonicDe novosynonymous SNVNM_015136c.G6819Ap.A2273A-7.0E-4Yuen2017 G
STAB1     2-1429-004chr3:
52555734-52555734
CTintronicDe novo-8.752E-6Yuen2017 G
STAB1     iHART2777chr3:
52553372-52553372
GGCexonicPaternalframeshift insertionNM_015136c.5128dupCp.L1709fs-7.474E-5Ruzzo2019 G
STAB1     iHART2792chr3:
52551067-52551068
TGTexonicPaternalframeshift deletionNM_015136c.4432delGp.G1478fs--Ruzzo2019 G
STAB1     iHART2989chr3:
52554560-52554560
CTexonicMaternalstopgainNM_015136c.C5644Tp.R1882X41.08.364E-6Ruzzo2019 G
STAB1     13665.p1chr3:
52540749-52540749
GCexonicDe novononsynonymous SNVNM_015136c.G1872Cp.R624S5.391-Krumm2015 E
Lim2017 E
Satterstrom2020 E
STAB1     iHART2772chr3:
52554307-52554307
GAsplicingMaternalsplicing10.451.661E-5Ruzzo2019 G
STAB1     ASD_F6Pchr3:
52548772-52548772
CAexonicUnknownstopgainNM_015136c.C3734Ap.S1245X40.0-Li2017 T
STAB1     1-0303-004chr3:
52533898-52533898
GCintronicDe novo--Yuen2017 G
STAB1     1562001chr3:
52549467-52549467
GCexonicDe novononsynonymous SNVNM_015136c.G3893Cp.R1298P12.961.663E-5Satterstrom2020 E
STAB1     13890.p1chr3:
52555566-52555567
GCGintronicDe novo--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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