or
or
Exact

Results for "FANCD2"

Variant Events: 8

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
FANCD2     1-0436-003chr3:
10136659-10136659
GTintronicDe novo--Yuen2016 G
Yuen2017 G
FANCD2     11620.p1chr3:
10115067-10115067
CTintronicDe novo-1.65E-5Satterstrom2020 E
FANCD2     AU2075302chr3:
10129683-10129683
CTintronicDe novo--Yuen2017 G
FANCD2     1651001chr3:
10109023-10109023
GAintronicDe novo--Satterstrom2020 E
FANCD2     Cukier2014:37150chr3:
10115047-10115047
GAsplicingUnknownsplicing16.482.0E-4Cukier2014 E
FANCD2     11938.p1chr3:
10120973-10120973
AGintronicMosaic Mat.--Dou2017 E
FANCD2     08C72239chr3:
10085167-10085167
GAsplicingDe novosplicing6.4142.0E-4Satterstrom2020 E
FANCD2     AU4465303chr3:
10106444-10106444
GAexonicDe novononsynonymous SNVNM_001018115
NM_033084
c.G2053A
c.G2053A
p.G685R
p.G685R
15.14.942E-5Yuen2017 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