or
or
Exact

Results for "C7orf65"

Variant Events: 9

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
C7orf65   2-1322-003chr7:
47710666-47710666
ACintergenicDe novo--Yuen2017 G
C7orf65   7-0058-003chr7:
47753600-47753600
TAintergenicDe novo--Yuen2017 G
C7orf65   AU3888302chr7:
47789952-47789952
AGintergenicDe novo--Yuen2017 G
C7orf65   AU4233301chr7:
47705348-47705348
TAintergenicDe novo--Yuen2017 G
C7orf65   2-0022-005chr7:
47739023-47739023
CTintergenicDe novo--Yuen2017 G
C7orf65   1-0482-003chr7:
47712623-47712623
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
C7orf65   7-0097-003chr7:
47777731-47777731
CTintergenicDe novo--Yuen2017 G
C7orf65   13684.p1chr7:
47783742-47783742
GAintergenicDe novo--Wilfert2021 G
C7orf65   11252.p1chr7:
47703055-47703055
GAintergenicDe novo--Turner2016 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