Variant Results

or

or

Results for "KDM5A"

Variant Events: 12

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

KDM5A

Krgovic2022:033739

chr12:
463318-463318

T

C

exonic

Unknown

nonsynonymous SNV

NM_001042603

c.A953G

p.Y318C

25.4

Krgovic2022 E

KDM5A

A1402B

chr12:
420116-420119

GTGC

G

exonic

De novo

nonframeshift deletion

NM_001042603

c.3148_3150del

p.1050_1050del

-

-

Fu2022 E

KDM5A

2-1281-003

chr12:
402424-402424

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KDM5A

SP0043916

chr12:
432392-432392

A

G

intronic

De novo

-

Trost2022 G

KDM5A

AU065304

chr12:
448355-448355

A

T

intronic

De novo

-

-

Trost2022 G

KDM5A

MSSNG00407-003

chr12:
401340-401340

G

A

intronic

De novo

-

-

Trost2022 G

KDM5A

PN400264

chr12:
394719-394721

GCA

G

exonic

Unknown

frameshift deletion

NM_001042603

c.4974_4975del

p.C1658fs

-

-

Leblond2019 E

KDM5A

REACH000086

chr12:
430768-430768

A

C

intronic

De novo

-

-

Trost2022 G

KDM5A

5-5227-003

chr12:
388441-388441

T

C

downstream

De novo

-

-

Trost2022 G

KDM5A

AU034904

chr12:
393790-393790

C

T

UTR3

De novo

-

-

Yuen2017 G

KDM5A

More2023:4

chr12:
430192-430192

G

A

exonic

Inherited

nonsynonymous SNV

NM_001042603

c.C2510T

p.P837L

33.0

More2023 G

KDM5A

MSSNG00046-004

chr12:
397154-397154

T

C

intronic

De novo

-

-

Trost2022 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
	More