Variant Results

or

or

Results for "MDH1B"

Variant Events: 11

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

MDH1B

mAGRE1988

chr2:
207615723-207615724

TC

T

exonic

Maternal

frameshift deletion

NM_001039845
NM_001282940

c.986delG
c.986delG

p.R329fs
p.R329fs

-

-

Cirnigliaro2023 G

MDH1B

mAGRE4465

chr2:
207613868-207613869

GT

G

exonic

Paternal

frameshift deletion

NM_001039845
NM_001282940

c.1091delA
c.1091delA

p.N364fs
p.N364fs

-

Cirnigliaro2023 G

MDH1B

mAGRE4464

chr2:
207613868-207613869

GT

G

exonic

Paternal

frameshift deletion

NM_001039845
NM_001282940

c.1091delA
c.1091delA

p.N364fs
p.N364fs

-

Cirnigliaro2023 G

MDH1B

iHART1989

chr2:
207615723-207615724

TC

T

exonic

Maternal

frameshift deletion

NM_001039845
NM_001282940

c.986delG
c.986delG

p.R329fs
p.R329fs

-

-

Ruzzo2019 G

MDH1B

SP0199223

chr2:
207605770-207605770

T

C

intronic

De novo

-

-

Trost2022 G

MDH1B

iHART1988

chr2:
207615723-207615724

TC

T

exonic

Maternal

frameshift deletion

NM_001039845
NM_001282940

c.986delG
c.986delG

p.R329fs
p.R329fs

-

-

Ruzzo2019 G

MDH1B

REACH000405

chr2:
207615827-207615827

T

A

intronic

De novo

-

-

Trost2022 G

MDH1B

SP0013534

chr2:
207604331-207604331

A

G

exonic

De novo

nonsynonymous SNV

NM_001039845
NM_001282940

c.T1514C
c.T1511C

p.L505P
p.L504P

7.966

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MDH1B

2-1363-003

chr2:
207625949-207625949

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MDH1B

mAGRE1989

chr2:
207615723-207615724

TC

T

exonic

Maternal

frameshift deletion

NM_001039845
NM_001282940

c.986delG
c.986delG

p.R329fs
p.R329fs

-

-

Cirnigliaro2023 G

MDH1B

10C102323

chr2:
207621863-207621865

AAG

A

intronic

De novo

-

-

Neale2012 E

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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