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Results for "HK1"
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
HK1
1410001
chr10:
71129363-71129363
C
T
exonic
De novo
synonymous SNV
NM_000188
NM_033496
NM_033497
NM_033498
NM_033500
c.C858T
c.C855T
c.C870T
c.C870T
c.C822T
p.L286L
p.L285L
p.L290L
p.L290L
p.L274L
-
-
Satterstrom2020
E
HK1
1-0627-003
chr10:
71142451-71142451
C
G
exonic
De novo
nonsynonymous SNV
NM_000188
NM_033496
NM_033497
NM_033498
NM_033500
c.C1474G
c.C1471G
c.C1486G
c.C1486G
c.C1438G
p.R492G
p.R491G
p.R496G
p.R496G
p.R480G
15.22
-
Yuen2017
G
HK1
PN400289
chr10:
71160770-71160770
C
T
exonic
Unknown
nonsynonymous SNV
NM_000188
NM_033496
NM_033497
NM_033498
NM_033500
c.C2633T
c.C2630T
c.C2645T
c.C2645T
c.C2597T
p.T878M
p.T877M
p.T882M
p.T882M
p.T866M
26.3
1.0E-4
Leblond2019
E
HK1
1-0826-003
chr10:
71114221-71114221
G
C
intronic
De novo
-
-
Yuen2017
G
HK1
PN400568
chr10:
71160770-71160770
C
T
exonic
Unknown
nonsynonymous SNV
NM_000188
NM_033496
NM_033497
NM_033498
NM_033500
c.C2633T
c.C2630T
c.C2645T
c.C2645T
c.C2597T
p.T878M
p.T877M
p.T882M
p.T882M
p.T866M
26.3
1.0E-4
Leblond2019
E
HK1
13760.p1
chr10:
71077992-71077992
G
A
intronic
De novo
-
-
Wilfert2021
G
HK1
AU1952305
chr10:
71154553-71154553
C
G
intronic
De novo
-
-
Yuen2017
G
HK1
2-1709-003
chr10:
71112288-71112288
G
A
intronic
De novo
-
-
Yuen2017
G
HK1
PN400533
chr10:
71160770-71160770
C
T
exonic
Unknown
nonsynonymous SNV
NM_000188
NM_033496
NM_033497
NM_033498
NM_033500
c.C2633T
c.C2630T
c.C2645T
c.C2645T
c.C2597T
p.T878M
p.T877M
p.T882M
p.T882M
p.T866M
26.3
1.0E-4
Leblond2019
E
HK1
1855-23570
chr10:
71158568-71158568
T
C
exonic
Inherited
nonsynonymous SNV
NM_000188
NM_033496
NM_033497
NM_033498
NM_033500
c.T2593C
c.T2590C
c.T2605C
c.T2605C
c.T2557C
p.Y865H
p.Y864H
p.Y869H
p.Y869H
p.Y853H
21.2
-
Callaghan2019
G
HK1
PN400543
chr10:
71160770-71160770
C
T
exonic
Unknown
nonsynonymous SNV
NM_000188
NM_033496
NM_033497
NM_033498
NM_033500
c.C2633T
c.C2630T
c.C2645T
c.C2645T
c.C2597T
p.T878M
p.T877M
p.T882M
p.T882M
p.T866M
26.3
1.0E-4
Leblond2019
E
HK1
Mahjani2021:22
chr10:
71154749-71154749
C
T
exonic
nonsynonymous SNV
NM_000188
NM_033496
NM_033497
NM_033498
NM_033500
c.C2263T
c.C2260T
c.C2275T
c.C2275T
c.C2227T
p.R755C
p.R754C
p.R759C
p.R759C
p.R743C
23.6
8.252E-6
Mahjani2021
E
HK1
Mahjani2021:108
chr10:
71154791-71154791
C
T
exonic
stopgain
NM_000188
NM_033496
NM_033497
NM_033498
NM_033500
c.C2305T
c.C2302T
c.C2317T
c.C2317T
c.C2269T
p.R769X
p.R768X
p.R773X
p.R773X
p.R757X
41.0
-
Mahjani2021
E
HK1
AU054304
chr10:
71092072-71092072
G
A
intronic
De 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 notes
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