Variant Results

or

Results for "SLC47A2"

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

SLC47A2

SSC05570

chr17:
19584847-19584847

A

G

intronic

De novo

-

Fu2022 E

SLC47A2

5-0025-004

chr17:
19615885-19615885

T

A

intronic

De novo

-

Yuen2017 G

SLC47A2

AU4149301

chr17:
19583283-19583283

T

A

exonic

De novo

stopgain

NM_001099646
NM_152908
NM_001256663

c.A1462T
c.A1570T
c.A1504T

p.K488X
p.K524X
p.K502X

29.7

-

Yuen2017 G

SLC47A2

12784.p1

chr17:
19584847-19584847

A

G

intronic

De novo, Mosaic

-

Dou2017 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SLC47A2

1-0112-004

chr17:
19607122-19607122

G

C

intronic

De novo

-

Yuen2017 G

SLC47A2

13143.p1

chr17:
19622509-19622509

C

A

intergenic

De novo

-

Wilfert2021 G

SLC47A2

iHART2103

chr17:
19582132-19582133

GC

G

exonic

Paternal

frameshift deletion

NM_001099646
NM_152908
NM_001256663

c.1567delG
c.1675delG
c.1609delG

p.A523fs
p.A559fs
p.A537fs

-

Ruzzo2019 G

SLC47A2

AU3857301

chr17:
19625327-19625327

T

A

intergenic

De novo

-

Yuen2017 G

SLC47A2

1-0558-003

chr17:
19635325-19635327

TCC

TC

intergenic

De novo

-

Yuen2017 G

SLC47A2

2-1215-003

chr17:
19604579-19604579

T

G

intronic

De novo

-

Yuen2017 G

SLC47A2

12020.p1

chr17:
19617328-19617328

G

C

intronic

De novo

-

Satterstrom2020 E

SLC47A2

SP0102208

chr17:
19619714-19619714

T

A

intronic

De novo

-

Fu2022 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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