Variant Results

or

Results for "SLC44A3"

Variant Events: 16

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

SLC44A3

AU4260303

chr1:
95296063-95296063

G

A

intronic

De novo

-

Yuen2017 G

SLC44A3

9011

chr1:
95322927-95322927

A

ATAAGCCCCTTTTGGG

exonic

De novo

nonframeshift insertion

NM_001258342
NM_001258343
NM_001301079
NM_152369
NM_001114106
NM_001258340
NM_001258341

c.1001_1002insTAAGCCCCTTTTGGG
c.905_906insTAAGCCCCTTTTGGG
c.869_870insTAAGCCCCTTTTGGG
c.965_966insTAAGCCCCTTTTGGG
c.1109_1110insTAAGCCCCTTTTGGG
c.1109_1110insTAAGCCCCTTTTGGG
c.1013_1014insTAAGCCCCTTTTGGG

p.Y334delinsYKPLLG
p.Y302delinsYKPLLG
p.Y290delinsYKPLLG
p.Y322delinsYKPLLG
p.Y370delinsYKPLLG
p.Y370delinsYKPLLG
p.Y338delinsYKPLLG

-

Fu2022 E

SLC44A3

MSSNG00366-004

chr1:
95327451-95327451

T

G

intronic

De novo

-

Trost2022 G

SLC44A3

1-0213-004

chr1:
95316682-95316682

C

G

intronic

De novo

-

Yuen2017 G

SLC44A3

5-5046-004

chr1:
95326862-95326862

A

G

intronic

De novo

-

Trost2022 G

SLC44A3

5-0133-003

chr1:
95357635-95357635

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC44A3

7-0450-003

chr1:
95333638-95333638

T

C

intronic

De novo

-

Trost2022 G

SLC44A3

SP0182257

chr1:
95330348-95330348

C

T

exonic

De novo

nonsynonymous SNV

NM_001258342
NM_001258343
NM_001301079
NM_152369
NM_001114106
NM_001258340
NM_001258341

c.C1180T
c.C1084T
c.C1048T
c.C1144T
c.C1288T
c.C1288T
c.C1192T

p.L394F
p.L362F
p.L350F
p.L382F
p.L430F
p.L430F
p.L398F

20.2

-

Trost2022 G

SLC44A3

2-0081-003

chr1:
95310294-95310294

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC44A3

2-1341-004

chr1:
95315086-95315088

CTT

GCCC

intronic

De novo

-

Trost2022 G

SLC44A3

12154.p1

chr1:
95356667-95356667

C

T

intronic

Mosaic, De novo

-

Dou2017 E
Krumm2015 E

SLC44A3

AU0039303

chr1:
95314761-95314761

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC44A3

3-0063-000

chr1:
95357508-95357508

G

C

intronic

De novo

-

Trost2022 G

SLC44A3

SP0018681

chr1:
95354196-95354197

TC

T

intronic

De novo

-

Trost2022 G

SLC44A3

1-0636-003

chr1:
95342163-95342163

C

T

intronic

De novo

-

Yuen2017 G

SLC44A3

SP0223043

chr1:
95357898-95357898

T

G

exonic

De novo

nonsynonymous SNV

NM_001258342
NM_001258343
NM_001301079
NM_152369
NM_001114106
NM_001258340
NM_001258341

c.T1574G
c.T1478G
c.T1442G
c.T1538G
c.T1682G
c.T1679G
c.T1583G

p.F525C
p.F493C
p.F481C
p.F513C
p.F561C
p.F560C
p.F528C

16.85

-

Trost2022 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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