Variant Results

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Results for "MAP3K6"

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

MAP3K6

iHART2450

chr1:
27687695-27687695

C

CG

exonic

Maternal

frameshift insertion

NM_001297609
NM_004672

c.1760dupC
c.1784dupC

p.P587fs
p.P595fs

-

Ruzzo2019 G

MAP3K6

SSC04784

chr1:
27690724-27690724

G

T

exonic

De novo

synonymous SNV

NM_001297609
NM_004672

c.C642A
c.C666A

p.R214R
p.R222R

-

Fu2022 E
Lim2017 E
Trost2022 G

MAP3K6

F9212-1

chr1:
27689457-27689457

G

T

exonic

De novo

nonsynonymous SNV

NM_001297609
NM_004672

c.C1003A
c.C1027A

p.Q335K
p.Q343K

9.462

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MAP3K6

Chen2017:121

chr1:
27685327-27685327

A

G

exonic

De novo

nonsynonymous SNV

NM_001297609
NM_004672

c.T2432C
c.T2456C

p.I811T
p.I819T

25.1

Chen2017 E

MAP3K6

12264.p1

chr1:
27690724-27690724

G

T

exonic

De novo

synonymous SNV

NM_001297609
NM_004672

c.C642A
c.C666A

p.R214R
p.R222R

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

MAP3K6

Wang2023:670

chr1:
27692863-27692863

G

A

exonic

De novo

nonsynonymous SNV

NM_001297609
NM_004672

c.C226T
c.C226T

p.R76C
p.R76C

25.7

-

Wang2023 E

MAP3K6

mAGRE2450

chr1:
27687695-27687695

C

CG

exonic

Maternal

frameshift insertion

NM_001297609
NM_004672

c.1760dupC
c.1784dupC

p.P587fs
p.P595fs

-

Cirnigliaro2023 G

MAP3K6

mAGRE5546

chr1:
27686353-27686353

A

AT

exonic

Paternal

frameshift insertion

NM_001297609
NM_004672

c.2290dupA
c.2314dupA

p.I764fs
p.I772fs

-

-

Cirnigliaro2023 G

MAP3K6

mAGRE5545

chr1:
27686353-27686353

A

AT

exonic

Paternal

frameshift insertion

NM_001297609
NM_004672

c.2290dupA
c.2314dupA

p.I764fs
p.I772fs

-

-

Cirnigliaro2023 G

MAP3K6

mAGRE4952

chr1:
27683538-27683545

CTGAGCAG

C

exonic

Paternal

frameshift deletion

NM_001297609
NM_004672

c.3295_3301del
c.3319_3325del

p.L1099fs
p.L1107fs

-

-

Cirnigliaro2023 G

MAP3K6

mAGRE4698

chr1:
27683538-27683545

CTGAGCAG

C

exonic

Maternal

frameshift deletion

NM_001297609
NM_004672

c.3295_3301del
c.3319_3325del

p.L1099fs
p.L1107fs

-

-

Cirnigliaro2023 G

MAP3K6

mAGRE4697

chr1:
27683538-27683545

CTGAGCAG

C

exonic

Maternal

frameshift deletion

NM_001297609
NM_004672

c.3295_3301del
c.3319_3325del

p.L1099fs
p.L1107fs

-

-

Cirnigliaro2023 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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