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Results for "CYHR1"
Variant Events: 23
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
CYHR1
PN400330
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
PN400332
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
PN400170
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
AU055004
chr8:
145690529-145690529
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CYHR1
PN400474
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
1-0339-004
chr8:
145683378-145683378
T
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CYHR1
1-1230-003
chr8:
145688183-145688183
C
T
intronic
De novo
-
-
Trost2022
G
CYHR1
AU4467302
chr8:
145683629-145683629
A
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CYHR1
11893.p1
chr8:
145677925-145677925
C
T
exonic
Mosaic
nonsynonymous SNV
NM_138496
c.G514A
p.G172S
36.0
-
Krupp2017
E
CYHR1
5-5027-003
chr8:
145677387-145677387
C
G
intronic
De novo
-
-
Trost2022
G
CYHR1
2-1579-003
chr8:
145680354-145680354
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CYHR1
1-1129-003
chr8:
145684642-145684642
G
A
intronic
De novo
-
-
Trost2022
G
CYHR1
PN400559
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
PN400546
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
PN400484
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
PN400562
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
PN400361
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
PN400416
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
PN400548
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
1-0563-004
chr8:
145682365-145682365
T
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CYHR1
PN400108
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
PN400262
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
CYHR1
PN400534
chr8:
145689658-145689658
G
GC
exonic
Unknown
frameshift insertion
NM_001129888
NM_032687
c.430dupG
c.430dupG
p.A144fs
p.A144fs
-
0.0044
Leblond2019
E
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 notes
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