Variant Results

or

or

Results for "SLC39A12"

Variant Events: 15

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

SLC39A12

1-0065-005

chr10:
18345841-18345841

C

T

intergenic

De novo

-

-

Yuen2017 G

SLC39A12

EGAN00001101404

chr10:
18331675-18331675

G

A

exonic

De novo

nonsynonymous SNV

NM_001282734
NM_152725
NM_001145195
NM_001282733

c.G1587A
c.G1878A
c.G1989A
c.G1986A

p.M529I
p.M626I
p.M663I
p.M662I

15.23

-

Fu2022 E
Satterstrom2020 E

SLC39A12

AU3807302

chr10:
18377114-18377114

T

C

intergenic

De novo

-

-

Yuen2017 G

SLC39A12

7-0024-003

chr10:
18385202-18385202

C

T

intergenic

De novo

-

-

Yuen2017 G

SLC39A12

7-0024-003

chr10:
18395264-18395264

G

T

intergenic

De novo

-

-

Yuen2017 G

SLC39A12

AU4235301

chr10:
18281733-18281733

G

A

intronic

De novo

-

-

Yuen2017 G

SLC39A12

7-0068-003

chr10:
18276538-18276538

C

T

exonic

De novo

synonymous SNV

NM_001282734
NM_001145195
NM_001282733
NM_152725

c.C825T
c.C1227T
c.C1227T
c.C1227T

p.V275V
p.V409V
p.V409V
p.V409V

-

Yuen2017 G

SLC39A12

1-0402-004

chr10:
18422861-18422861

G

A

intergenic

De novo

-

-

Yuen2017 G

SLC39A12

3-0216-000

chr10:
18301517-18301517

G

A

intronic

De novo

-

-

Yuen2017 G

SLC39A12

5-0133-003

chr10:
18260443-18260443

T

G

intronic

De novo

-

-

Yuen2017 G

SLC39A12

2-1272-003

chr10:
18255315-18255315

C

A

intronic

De novo

-

-

Yuen2016 G

SLC39A12

12261.p1

chr10:
18250538-18250538

T

C

exonic

De novo

nonsynonymous SNV

NM_001145195
NM_001282733
NM_152725

c.T290C
c.T290C
c.T290C

p.I97T
p.I97T
p.I97T

11.1

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

SLC39A12

EGAN00001101334

chr10:
18250612-18250613

AT

A

exonic

De novo

frameshift deletion

NM_001145195
NM_001282733
NM_152725

c.365delT
c.365delT
c.365delT

p.I122fs
p.I122fs
p.I122fs

-

-

Fu2022 E
Satterstrom2020 E

SLC39A12

12261_p1

chr10:
18250538-18250538

T

C

exonic

De novo

nonsynonymous SNV

NM_001145195
NM_001282733
NM_152725

c.T290C
c.T290C
c.T290C

p.I97T
p.I97T
p.I97T

11.1

-

Fu2022 E

SLC39A12

AU045010

chr10:
18372712-18372712

C

T

intergenic

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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