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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     1410001chr10:
71129363-71129363
CTexonicDe novosynonymous SNVNM_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     1-0627-003chr10:
71142451-71142451
CGexonicDe novononsynonymous SNVNM_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     PN400289chr10:
71160770-71160770
CTexonicUnknownnonsynonymous SNVNM_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
26.31.0E-4Leblond2019 E
HK1     1-0826-003chr10:
71114221-71114221
GCintronicDe novo--Yuen2017 G
HK1     PN400568chr10:
71160770-71160770
CTexonicUnknownnonsynonymous SNVNM_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
26.31.0E-4Leblond2019 E
HK1     13760.p1chr10:
71077992-71077992
GAintronicDe novo--Wilfert2021 G
HK1     AU1952305chr10:
71154553-71154553
CGintronicDe novo--Yuen2017 G
HK1     2-1709-003chr10:
71112288-71112288
GAintronicDe novo--Yuen2017 G
HK1     PN400533chr10:
71160770-71160770
CTexonicUnknownnonsynonymous SNVNM_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
26.31.0E-4Leblond2019 E
HK1     1855-23570chr10:
71158568-71158568
TCexonicInheritednonsynonymous SNVNM_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     PN400543chr10:
71160770-71160770
CTexonicUnknownnonsynonymous SNVNM_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
26.31.0E-4Leblond2019 E
HK1     Mahjani2021:22chr10:
71154749-71154749
CTexonicnonsynonymous SNVNM_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
23.68.252E-6Mahjani2021 E
HK1     Mahjani2021:108chr10:
71154791-71154791
CTexonicstopgainNM_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     AU054304chr10:
71092072-71092072
GAintronicDe 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 notesView
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