Variant Results

or

Results for "HK1"

Variant Events: 25

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

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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

13760.p1

chr10:
71077992-71077992

G

A

intronic

De novo

-

Wilfert2021 G

HK1

AU1952305

chr10:
71154553-71154553

C

G

intronic

De novo

-

Trost2022 G
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

MT_186.4

chr10:
71070794-71070794

C

T

intronic

De novo

-

Trost2022 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

SP0060222

chr10:
71103579-71103579

C

A

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HK1

4-0074-003

chr10:
71074980-71074980

T

TTGC

intronic

De novo

-

Trost2022 G

HK1

5-5119-003

chr10:
71044493-71044493

C

G

intronic

De novo

-

Trost2022 G

HK1

SP0040696

chr10:
71129258-71129258

C

T

exonic

De novo

synonymous SNV

NM_000188
NM_033496
NM_033497
NM_033498
NM_033500

c.C753T
c.C750T
c.C765T
c.C765T
c.C717T

p.D251D
p.D250D
p.D255D
p.D255D
p.D239D

-

3.295E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

HK1

SP0060378

chr10:
71158430-71158430

G

A

exonic

De novo

nonsynonymous SNV

NM_000188
NM_033496
NM_033497
NM_033498
NM_033500

c.G2455A
c.G2452A
c.G2467A
c.G2467A
c.G2419A

p.V819I
p.V818I
p.V823I
p.V823I
p.V807I

25.3

8.287E-6

Fu2022 E
Zhou2022 GE

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

MT_189.3

chr10:
71162365-71162365

T

C

downstream

De novo

-

Trost2022 G

HK1

2-0162-003

chr10:
71137138-71137138

C

T

intronic

De novo

-

Trost2022 G

HK1

1-0756-004

chr10:
71148726-71148736

ATGGGTAGAAT

A

intronic

De novo

-

Trost2022 G

HK1

5-0050-003

chr10:
71082514-71082514

C

A

intronic

De novo

-

Trost2022 G

HK1

AU2296301

chr10:
71104514-71104514

C

T

intronic

De novo

-

Trost2022 G

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
Zhou2022 GE

HK1

1-0826-003

chr10:
71114221-71114221

G

C

intronic

De novo

-

Trost2022 G
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

2-1709-003

chr10:
71112288-71112288

G

A

intronic

De novo

-

Yuen2017 G

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

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

AU054304

chr10:
71092072-71092072

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 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 notes	View
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