Variant Results

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Results for "SLC46A3"

Variant Events: 14

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

SLC46A3

2-1255-003

chr13:
29438842-29438842

A

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SLC46A3

AU3849303

chr13:
29543379-29543379

G

C

intergenic

De novo

-

-

Yuen2017 G

SLC46A3

2-1620-004

chr13:
29335962-29335962

C

A

intergenic

De novo

-

-

Yuen2017 G

SLC46A3

1-0269-005

chr13:
29323450-29323450

T

C

intergenic

De novo

-

-

Yuen2017 G

SLC46A3

AU3809302

chr13:
29394568-29394568

C

G

intergenic

De novo

-

-

Yuen2017 G

SLC46A3

7-0143-003

chr13:
29395746-29395746

A

G

intergenic

De novo

-

-

Yuen2017 G

SLC46A3

AU071203

chr13:
29293166-29293166

G

T

upstream

De novo

-

-

Yuen2017 G

SLC46A3

7-0192-003

chr13:
29535811-29535811

G

A

intergenic

De novo

-

-

Yuen2017 G

SLC46A3

AU4024303

chr13:
29349703-29349703

T

C

intergenic

De novo

-

-

Yuen2017 G

SLC46A3

iHART1890

chr13:
29287262-29287262

C

CA

exonic

Paternal

frameshift insertion

NM_001135919
NM_181785

c.614dupT
c.614dupT

p.V205fs
p.V205fs

-

Ruzzo2019 G

SLC46A3

1-0546-003

chr13:
29380739-29380739

C

T

intergenic

De novo

-

-

Yuen2017 G

SLC46A3

iHART1889

chr13:
29287262-29287262

C

CA

exonic

Paternal

frameshift insertion

NM_001135919
NM_181785

c.614dupT
c.614dupT

p.V205fs
p.V205fs

-

Ruzzo2019 G

SLC46A3

74-0358

chr13:
29286840-29286840

C

T

exonic

Inherited

nonsynonymous SNV

NM_001135919
NM_181785

c.G1037A
c.G1037A

p.S346N
p.S346N

7.242

-

Patowary2019 E

SLC46A3

iHART1103

chr13:
29275669-29275669

G

A

exonic

Paternal

stopgain

NM_001135919
NM_181785

c.C1351T
c.C1351T

p.Q451X
p.Q451X

36.0

Ruzzo2019 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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