Variant Results

or

or

Results for "SLC24A4"

Variant Events: 21

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

SLC24A4

iHART2991

chr14:
92949044-92949044

A

T

exonic

Paternal

stopgain

NM_153646
NM_153648
NM_153647

c.A1276T
c.A1084T
c.A1219T

p.K426X
p.K362X
p.K407X

39.0

-

Ruzzo2019 G

SLC24A4

AU2756306

chr14:
92949044-92949044

A

T

exonic

Paternal

stopgain

NM_153646
NM_153648
NM_153647

c.A1276T
c.A1084T
c.A1219T

p.K426X
p.K362X
p.K407X

39.0

-

Cirnigliaro2023 G

SLC24A4

1-0568-003

chr14:
92864827-92864827

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC24A4

1-0674-003

chr14:
92904597-92904597

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC24A4

AU4286302

chr14:
92927679-92927679

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC24A4

4-0062-003

chr14:
92964042-92964053

CAGCAGTTGAGA

C

UTR3

De novo

-

-

Trost2022 G

SLC24A4

3-0419-000

chr14:
92967155-92967155

A

G

UTR3

De novo

-

-

Trost2022 G

SLC24A4

1842001

chr14:
92958049-92958049

C

T

exonic

De novo

synonymous SNV

NM_153646
NM_153648
NM_153647

c.C1578T
c.C1386T
c.C1521T

p.N526N
p.N462N
p.N507N

8.285

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SLC24A4

MT_182.3

chr14:
92923066-92923066

C

T

intronic

De novo

-

-

Trost2022 G

SLC24A4

1-1123-003

chr14:
92928246-92928246

C

T

intronic

De novo

-

-

Trost2022 G

SLC24A4

1-0443-003

chr14:
92859678-92859678

C

A

intronic

De novo

-

-

Yuen2016 G

SLC24A4

2-1693-003

chr14:
92931407-92931407

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC24A4

SP0006376

chr14:
92909666-92909666

G

C

intronic

De novo

-

-

Fu2022 E

SLC24A4

1-0269-005

chr14:
92937770-92937770

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC24A4

AU3885304

chr14:
92860772-92860772

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC24A4

1-0571-003

chr14:
92934210-92934210

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC24A4

MSSNG00363-004

chr14:
92866555-92866555

C

T

intronic

De novo

-

-

Trost2022 G

SLC24A4

1-0239-003

chr14:
92914784-92914784

G

A

intronic

De novo

-

-

Trost2022 G

SLC24A4

7-0225-003

chr14:
92807471-92807471

G

A

intronic

De novo

-

-

Trost2022 G

SLC24A4

2-1526-004

chr14:
92921987-92921989

CGA

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC24A4

3-0065-000

chr14:
92852122-92852122

C

G

intronic

De novo

-

-

Trost2022 G
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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