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Results for "TRAF7"

Variant Events: 14

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
Wang2020 T
TRAF7     SF0026424.p1chr16:
2226167-2226167
GAexonicnonsynonymous SNVNM_032271c.G1864Ap.D622N25.0-Wang2020 T
TRAF7     SP0068163chr16:
2218148-2218148
GAexonicDe novosynonymous SNVNM_032271c.G210Ap.P70P-1.0E-4Fu2022 E
TRAF7     543-04-102048chr16:
2222281-2222281
CTexonicDe novononsynonymous SNVNM_032271c.C565Tp.R189W19.02-Fu2022 E
Satterstrom2020 E
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     287-04-101062chr16:
2223882-2223882
GGCCCCCintronicDe novo--Satterstrom2020 E
TRAF7     SSC09429chr16:
2226351-2226351
GAexonicnonsynonymous SNVNM_032271c.G1964Ap.R655Q18.65-Antaki2022 GE
TRAF7     SP0026424chr16:
2226167-2226167
GAexonicDe novononsynonymous SNVNM_032271c.G1864Ap.D622N25.0-Antaki2022 GE
Fu2022 E
TRAF7     G01-GEA-304-HIchr16:
2220742-2220742
GAintronicDe novo--Satterstrom2020 E
TRAF7     220-04-100624chr16:
2223858-2223858
GGCCCCCCCCintronicDe novo--Satterstrom2020 E
TRAF7     3C577chr16:
2223871-2223871
CCCCCCCCCCCGGintronicDe novo--Satterstrom2020 E
TRAF7     13983.p1chr16:
2226351-2226351
GAexonicUnknown, De novononsynonymous SNVNM_032271c.G1964Ap.R655Q18.65-Ji2016 E
Krumm2015 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
TRAF7     AU069603chr16:
2213441-2213441
GCintronicDe novo--Yuen2017 G
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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