Variant Results

or

or

Results for "SLC45A4"

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

SLC45A4

SJD_50

chr8:
142228160-142228160

C

T

exonic

Paternal

nonsynonymous SNV

NM_001080431
NM_001286646
NM_001286648

c.G1426A
c.G1579A
c.G1426A

p.V476M
p.V527M
p.V476M

25.5

Toma2013 E

SLC45A4

1-0385-003

chr8:
142305849-142305851

GGA

G

intergenic

De novo

-

-

Yuen2017 G

SLC45A4

AU2950302

chr8:
142335455-142335455

G

A

intergenic

De novo

-

-

Yuen2017 G

SLC45A4

iHART2479

chr8:
142221731-142221731

A

ACT

exonic

Maternal

frameshift insertion

NM_001080431
NM_001286646

c.2206_2207insAG
c.2366_2367insAG

p.V736fs
p.S789fs

-

-

Ruzzo2019 G

SLC45A4

AU4234302

chr8:
142332439-142332439

A

G

intergenic

De novo

-

-

Yuen2017 G

SLC45A4

5-0054-003

chr8:
142245250-142245250

C

G

intronic

De novo

-

-

Yuen2017 G

SLC45A4

1-0180-004

chr8:
142311172-142311172

G

A

intergenic

De novo

-

-

Yuen2017 G

SLC45A4

1-0231-004

chr8:
142269325-142269325

G

A

intergenic

De novo

-

-

Yuen2017 G

SLC45A4

SP0065988

chr8:
142222231-142222234

CCCG

C

UTR3

De novo

-

-

Fu2022 E

SLC45A4

12498.p1

chr8:
142272046-142272046

C

T

intergenic

De novo

-

-

Turner2016 G

SLC45A4

2-1275-003

chr8:
142306573-142306573

G

A

intergenic

De novo

-

-

Yuen2017 G

SLC45A4

AU070007

chr8:
142218481-142218481

G

A

UTR3

De novo

-

-

Yuen2017 G

SLC45A4

AU2123302

chr8:
142238739-142238739

A

G

intronic

De novo

-

-

Yuen2017 G

SLC45A4

1-0233-004

chr8:
142260389-142260395

TTTTCAC

T

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
	More