or
or
Exact

Results for "CRB1"

Variant Events: 22

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
CRB1     AU4223302chr1:
197456293-197456293
CTintergenicDe novo--Yuen2017 G
CRB1     SSC09520chr1:
197297759-197297759
GAexonicMosaicnonsynonymous SNVNM_001193640
NM_001257966
NM_201253
NM_001257965
c.G278A
c.G278A
c.G278A
c.G71A
p.S93N
p.S93N
p.S93N
p.S24N
2.4138.242E-6Lim2017 E
CRB1     5-0114-003chr1:
197345682-197345682
TCintronicDe novo--Yuen2017 G
CRB1     2-1210-003chr1:
197366992-197366992
TCintronicDe novo--Yuen2017 G
CRB1     AU4234302chr1:
197219701-197219701
TCintronicDe novo--Yuen2017 G
CRB1     1-0518-003chr1:
197375005-197375005
GAintronicDe novo--Yuen2017 G
CRB1     AU4176302chr1:
197172701-197172701
CTintronicDe novo--Yuen2017 G
CRB1     AU3765302chr1:
197420329-197420330
GAGintronicDe novo--Yuen2017 G
CRB1     2-1114-003chr1:
197395088-197395088
AGintronicDe novo--Yuen2017 G
CRB1     2-0126-004chr1:
197391353-197391353
TGintronicDe novo--Yuen2017 G
CRB1     09C89011chr1:
197390429-197390429
GAexonicDe novononsynonymous SNVNM_001193640
NM_001257966
NM_201253
NM_001257965
c.G1135A
c.G1471A
c.G1471A
c.G1264A
p.D379N
p.D491N
p.D491N
p.D422N
0.01-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CRB1     AU2165301chr1:
197185498-197185498
CTintronicDe novo--Yuen2017 G
CRB1     14070.p1chr1:
197297759-197297759
GAexonicMosaic, De novononsynonymous SNVNM_001193640
NM_001257966
NM_201253
NM_001257965
c.G278A
c.G278A
c.G278A
c.G71A
p.S93N
p.S93N
p.S93N
p.S24N
2.4138.242E-6Dou2017 E
Krumm2015 E
CRB1     2-1086-003chr1:
197196762-197196762
CTintronicDe novo--Yuen2017 G
CRB1     AU4465303chr1:
197315393-197315393
TCintronicDe novo--Yuen2017 G
CRB1     1-0569-003chr1:
197184721-197184721
AGintronicDe novo--Yuen2017 G
CRB1     1-0671-003chr1:
197331162-197331162
TCintronicDe novo--Yuen2017 G
CRB1     2-1382-003chr1:
197398799-197398799
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CRB1     5-0055-004chr1:
197288054-197288054
ATintronicDe novo--Yuen2017 G
CRB1     2-0002-005chr1:
197342185-197342185
GAintronicDe novo--Yuen2017 G
CRB1     1-0473-003chr1:
197286814-197286815
TATintronicDe novo--Yuen2017 G
CRB1     G01-GEA-317-HIchr1:
197397032-197397032
CAexonicDe novononsynonymous SNVNM_001193640
NM_201253
NM_001257965
c.C2241A
c.C2577A
c.C2370A
p.N747K
p.N859K
p.N790K
10.688.257E-6Satterstrom2020 E
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