or
or
Exact

Results for "TRAF7"

Variant Events: 26

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
TRAF7     10C102370chr16:
2226080-2226080		CTexonicUnknown, De novononsynonymous SNVNM_032271c.C1777Tp.R593W22.6-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
TRAF7     SF0026424.p1chr16:
2226167-2226167		GAexonicnonsynonymous SNVNM_032271c.G1864Ap.D622N25.0-Wang2020 T
TRAF7     287-04-101062chr16:
2223882-2223882		GGCCCCCintronicDe novo--Satterstrom2020 E
Trost2022 G
TRAF7     3C577chr16:
2223871-2223871		CCCCCCCCCCCGGintronicDe novo--Satterstrom2020 E
Trost2022 G
TRAF7     SMHC01744s000chr16:
2226107-2226107		GAexonicDe novononsynonymous SNVNM_032271c.G1804Ap.V602M24.4-Yuan2023 E
TRAF7     13983.p1chr16:
2226351-2226351		GAexonicUnknown, De novononsynonymous SNVNM_032271c.G1964Ap.R655Q18.65-Ji2016 E
Krumm2015 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
TRAF7     SP0068163chr16:
2218148-2218148		GAexonicDe novosynonymous SNVNM_032271c.G210Ap.P70P-1.0E-4Fu2022 E
Trost2022 G
Zhou2022 GE
TRAF7     543-04-102048chr16:
2222281-2222281		CTexonicDe novononsynonymous SNVNM_032271c.C565Tp.R189W19.02-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TRAF7     Leuven_109230chr16:
2226572-2226572		CAexonicUnknownstopgainNM_032271c.C2010Ap.C670X23.6-Wang2020 T
TRAF7     SanDiego_W6H6Mchr16:
2225543-2225543		CTexonicUnknownnonsynonymous SNVNM_032271c.C1546Tp.L516F34.0-Wang2020 T
TRAF7     SP0213215chr16:
2222623-2222623		TGintronicDe novo--Trost2022 G
TRAF7     SP0220724chr16:
2222623-2222623		TGintronicDe novo--Trost2022 G
TRAF7     SP0135668chr16:
2222623-2222623		TGintronicDe novo--Trost2022 G
TRAF7     SP0170323chr16:
2222623-2222623		TGintronicDe novo--Trost2022 G
TRAF7     SSC09429chr16:
2226351-2226351		GAexonicnonsynonymous SNVNM_032271c.G1964Ap.R655Q18.65-Antaki2022 GE
TRAF7     SP0008096chr16:
2222623-2222623		TGintronicDe novo--Trost2022 G
TRAF7     SP0026424chr16:
2226167-2226167		GAexonicDe novononsynonymous SNVNM_032271c.G1864Ap.D622N25.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
TRAF7     SP0050537chr16:
2222623-2222623		TGintronicDe novo--Trost2022 G
TRAF7     G01-GEA-304-HIchr16:
2220742-2220742		GAintronicDe novo--Satterstrom2020 E
Trost2022 G
TRAF7     5-5016-003chr16:
2220068-2220068		GAintronicDe novo--Trost2022 G
TRAF7     SP0167910chr16:
2222606-2222606		TGintronicDe novo--Trost2022 G
TRAF7     220-04-100624chr16:
2223858-2223858		GGCCCCCCCCintronicDe novo--Satterstrom2020 E
Trost2022 G
TRAF7     SP0235593chr16:
2222623-2222623		TGintronicDe novo--Trost2022 G
TRAF7     SP0231994chr16:
2222623-2222623		TGintronicDe novo--Trost2022 G
TRAF7     AU069603chr16:
2213441-2213441		GCintronicDe novo--Yuen2017 G
TRAF7     SP0234482chr16:
2222623-2222623		TGintronicDe novo--Trost2022 G
Source Variant Information

, -

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
More

VariCarta Copyright © 2016-2023 Contact Us