Variant Results

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Results for "MAP3K10"

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

MAP3K10

MSSNG00018-004

chr19:
40718567-40718567

T

C

intronic

De novo

-

-

Trost2022 G

MAP3K10

3035_17au

chr19:
40719905-40719905

G

GCCCACCC

exonic

De novo

frameshift insertion

NM_002446

c.2319_2320insCCCACCC

p.A773fs

-

-

Fu2022 E

MAP3K10

13511.p1

chr19:
40710396-40710396

G

A

exonic

De novo

nonsynonymous SNV

NM_002446

c.G868A

p.G290R

32.0

-

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

MAP3K10

Wang2023:354

chr19:
40719523-40719523

C

G

exonic

De novo

nonsynonymous SNV

NM_002446

c.C1937G

p.P646R

4.513

-

Wang2023 E

MAP3K10

AU1848302

chr19:
40711506-40711506

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP3K10

Cukier2014:7506

chr19:
40698441-40698441

C

A

exonic

Unknown

nonsynonymous SNV

NM_002446

c.C503A

p.P168Q

22.5

Cukier2014 E

MAP3K10

iHART2106

chr19:
40720000-40720001

AC

A

exonic

Unknown

frameshift deletion

NM_002446

c.2415delC

p.D805fs

-

-

Ruzzo2019 G

MAP3K10

mAGRE2106

chr19:
40720000-40720001

AC

A

exonic

Unknown

frameshift deletion

NM_002446

c.2415delC

p.D805fs

-

-

Cirnigliaro2023 G

MAP3K10

DEASD_0014_001

chr19:
40710355-40710355

G

A

intronic

De novo

-

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

MAP3K10

Bruno2021:XIV

chr19:
40719910-40719910

C

G

exonic

De novo

nonsynonymous SNV

NM_002446

c.C2324G

p.S775C

18.35

-

Bruno2021 E

MAP3K10

SSC08055

chr19:
40710396-40710396

G

A

exonic

De novo

nonsynonymous SNV

NM_002446

c.G868A

p.G290R

32.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

MAP3K10

SP0073952

chr19:
40710515-40710515

C

T

exonic

De novo

synonymous SNV

NM_002446

c.C987T

p.P329P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

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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