Variant Results

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Results for "SLC41A2"

Variant Events: 13

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

SLC41A2

2-0145-004

chr12:
105317094-105317096

CGT

TGC

intronic

De novo

-

-

Trost2022 G

SLC41A2

2-1120-003

chr12:
105317094-105317096

CGT

TGC

intronic

De novo

-

-

Trost2022 G

SLC41A2

1-0300-004

chr12:
105317065-105317065

A

G

intronic

De novo

-

-

Yuen2017 G

SLC41A2

MSSNG00020-003

chr12:
105271606-105271606

G

A

intronic

De novo

-

-

Trost2022 G

SLC41A2

2-1120-003

chr12:
105317090-105317090

T

A

intronic

De novo

-

-

Trost2022 G

SLC41A2

MSSNG00415-003

chr12:
105197954-105197955

AG

A

UTR3

De novo

-

-

Trost2022 G

SLC41A2

MSSNG00066-004

chr12:
105230288-105230288

C

G

intronic

De novo

-

-

Trost2022 G

SLC41A2

AU4093304

chr12:
105377515-105377515

G

A

intergenic

De novo

-

-

Yuen2017 G

SLC41A2

AU025704

chr12:
105244736-105244736

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC41A2

P1364

chr12:
105198950-105198950

C

T

exonic

De novo

nonsynonymous SNV

NM_032148

c.G1702A

p.D568N

28.9

-

Hashimoto2016 E

SLC41A2

AU2129301

chr12:
105361521-105361521

A

C

intergenic

De novo

-

-

Yuen2017 G

SLC41A2

1-0763-003

chr12:
105218462-105218462

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC41A2

1-0206-004

chr12:
105317080-105317080

A

C

intronic

De novo

-

-

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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