Variant Results

or

Results for "KLHDC10"

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

KLHDC10

JASD_Fam0221

chr7:
129736794-129736794

G

A

exonic

De novo

nonsynonymous SNV

NM_014997

c.G200A

p.R67K

18.07

-

Takata2018 E

KLHDC10

SP0081517

chr7:
129756312-129756312

G

A

exonic

De novo

nonsynonymous SNV

NM_014997

c.G281A

p.G94E

32.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

KLHDC10

ASC_18D966

chr7:
129760696-129760696

G

GC

exonic

De novo

frameshift insertion

NM_014997

c.584dupC

p.A195fs

-

Fu2022 E

KLHDC10

SSC07419

chr7:
129767258-129767258

C

T

exonic

De novo

stopgain

NM_014997

c.C946T

p.R316X

37.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

KLHDC10

1-0010-003

chr7:
129758336-129758339

CAAT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHDC10

1-0119-004

chr7:
129714600-129714600

T

C

intronic

De novo

-

Trost2022 G

KLHDC10

1-0119-004

chr7:
129714603-129714605

GCG

CCA

intronic

De novo

-

Trost2022 G

KLHDC10

11838.p1

chr7:
129767258-129767258

C

T

exonic

De novo

stopgain

NM_014997

c.C946T

p.R316X

37.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

KLHDC10

1-0010-005

chr7:
129758336-129758339

CAAT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KLHDC10

1-0119-004

chr7:
129714590-129714591

GG

AA

intronic

De novo

-

Trost2022 G

KLHDC10

1-0119-004

chr7:
129714596-129714596

T

C

intronic

De novo

-

Trost2022 G

KLHDC10

MSSNG00245-003

chr7:
129710005-129710005

A

G

upstream

De novo

-

Trost2022 G

KLHDC10

1-0119-004

chr7:
129714587-129714587

T

C

intronic

De novo

-

Trost2022 G

KLHDC10

AU4228302

chr7:
129745676-129745676

C

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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