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Results for "NISCH"

Variant Events: 18

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
NISCH     PN400323chr3:
52524841-52524841		GAexonicUnknownnonsynonymous SNVNM_007184c.G3734Ap.R1245Q32.08.246E-6Leblond2019 E
NISCH     09C98481chr3:
52492846-52492846		CGexonicDe novononsynonymous SNVNM_001276293
NM_001276294
NM_007184		c.C346G
c.C346G
c.C346G		p.H116D
p.H116D
p.H116D		8.95-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NISCH     80001101111chr3:
52518522-52518522		TCintronicDe novo--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NISCH     SP0004790chr3:
52522331-52522331		CGexonicDe novononsynonymous SNVNM_007184c.C2823Gp.F941L15.15-Fu2022 E
Trost2022 G
Zhou2022 GE
NISCH     12950.p1chr3:
52522495-52522495		GAexonicnonsynonymous SNVNM_007184c.G2987Ap.R996H19.111.66E-5Zhou2022 GE
NISCH     SP0114446chr3:
52512496-52512496		CTexonicDe novononsynonymous SNVNM_001276293
NM_001276294
NM_007184		c.C1205T
c.C1205T
c.C1205T		p.P402L
p.P402L
p.P402L		35.0-Fu2022 E
Trost2022 G
Zhou2022 GE
NISCH     SP0211886chr3:
52521322-52521322		GAexonicDe novononsynonymous SNVNM_007184c.G1814Ap.R605H13.09-Trost2022 G
NISCH     D4S2Z-01chr3:
52526291-52526291		CTexonicDe novosynonymous SNVNM_007184c.C4308Tp.D1436D--Trost2022 G
Zhou2022 GE
NISCH     13618.p1chr3:
52523558-52523558		CTexonicnonsynonymous SNVNM_007184c.C3320Tp.P1107L22.02.497E-5Zhou2022 GE
NISCH     217-14003-110chr3:
52526404-52526405		CCTAexonicUnknownnonframeshift substitutionNM_007184c.4421_4422TAN/A--Stessman2017 T
NISCH     14697.p1chr3:
52521539-52521542		AGAGAexonicDe novononframeshift deletionNM_007184c.2032_2034delp.678_678del--Iossifov2014 E
Kosmicki2017 E
Zhou2022 GE
NISCH     M08428chr3:
52510539-52510539		CTexonicMaternalnonsynonymous SNVNM_001276293
NM_001276294
NM_007184		c.C842T
c.C842T
c.C842T		p.A281V
p.A281V
p.A281V		36.0-Guo2018 T
Wang2016 T
NISCH     5022chr3:
52523529-52523529		ACexonicDe novosynonymous SNVNM_007184c.A3291Cp.P1097P--Fu2022 E
NISCH     AU2004302chr3:
52505847-52505847		GAexonicMaternalnonsynonymous SNVNM_001276293
NM_001276294
NM_007184		c.G427A
c.G427A
c.G427A		p.A143T
p.A143T
p.A143T		34.0-Stessman2017 T
NISCH     03C16459chr3:
52510496-52510496		GTexonicPaternalstopgainNM_001276293
NM_001276294
NM_007184		c.G799T
c.G799T
c.G799T		p.E267X
p.E267X
p.E267X		36.0-Stessman2017 T
NISCH     2-1358-003chr3:
52491122-52491122		CTintronicDe novo--Trost2022 G
Yuen2017 G
NISCH     215-13055-0653chr3:
52504917-52504917		GTexonicInheritedstopgainNM_001276293
NM_001276294
NM_007184		c.G403T
c.G403T
c.G403T		p.E135X
p.E135X
p.E135X		36.0-Stessman2017 T
NISCH     GX0217.p1chr3:
52505850-52505850		GAexonicPaternalnonsynonymous SNVNM_001276293
NM_001276294
NM_007184		c.G430A
c.G430A
c.G430A		p.G144S
p.G144S
p.G144S		34.01.661E-5Guo2018 T
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.
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