Variant Results

or

or

Results for "SLC10A1"

Variant Events: 22

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

SLC10A1

4-0062-003

chr14:
70250372-70250374

CAA

GAC

intronic

De novo

-

-

Trost2022 G

SLC10A1

1-0057-003

chr14:
70258387-70258390

AAGT

A

intronic

De novo

-

-

Trost2022 G

SLC10A1

MSSNG00085-003

chr14:
70246670-70246670

T

G

intronic

De novo

-

-

Trost2022 G

SLC10A1

iHART2188

chr14:
70246026-70246030

CAGAG

C

exonic

Maternal

frameshift deletion

NM_003049

c.615_618del

p.L205fs

-

Ruzzo2019 G

SLC10A1

iHART3004

chr14:
70245940-70245944

CAGAA

C

exonic

Paternal

frameshift deletion

NM_003049

c.701_704del

p.F234fs

-

Ruzzo2019 G

SLC10A1

iHART1025

chr14:
70263834-70263839

GGTGAA

G

exonic

Maternal

frameshift deletion

NM_003049

c.34_38del

p.F12fs

-

Ruzzo2019 G

SLC10A1

1-0357-003

chr14:
70275940-70275940

G

A

intergenic

De novo

-

-

Yuen2017 G

SLC10A1

1-0465-003a

chr14:
70268378-70268379

TG

T

intergenic

De novo

-

-

Yuen2017 G

SLC10A1

2-1269-003

chr14:
70269029-70269029

A

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SLC10A1

2-1355-004

chr14:
70256051-70256051

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC10A1

5-0042-003

chr14:
70342404-70342404

C

T

intergenic

De novo

-

-

Yuen2017 G

SLC10A1

1-0487-003

chr14:
70268233-70268233

C

A

intergenic

De novo

-

-

Yuen2016 G

SLC10A1

1-0991-003

chr14:
70253211-70253211

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SLC10A1

iHART3007

chr14:
70245940-70245944

CAGAA

C

exonic

Paternal

frameshift deletion

NM_003049

c.701_704del

p.F234fs

-

Ruzzo2019 G

SLC10A1

iHART3005

chr14:
70245940-70245944

CAGAA

C

exonic

Paternal

frameshift deletion

NM_003049

c.701_704del

p.F234fs

-

Ruzzo2019 G

SLC10A1

mAGRE1025

chr14:
70263834-70263839

GGTGAA

G

exonic

Maternal

frameshift deletion

NM_003049

c.34_38del

p.F12fs

-

Cirnigliaro2023 G

SLC10A1

mAGRE2188

chr14:
70246026-70246030

CAGAG

C

exonic

Maternal

frameshift deletion

NM_003049

c.615_618del

p.L205fs

-

Cirnigliaro2023 G

SLC10A1

AU2793303

chr14:
70245940-70245944

CAGAA

C

exonic

Paternal

frameshift deletion

NM_003049

c.701_704del

p.F234fs

-

Cirnigliaro2023 G

SLC10A1

1-0465-003

chr14:
70268378-70268379

TG

T

intergenic

De novo

-

-

Yuen2017 G

SLC10A1

AU2793302

chr14:
70245940-70245944

CAGAA

C

exonic

Paternal

frameshift deletion

NM_003049

c.701_704del

p.F234fs

-

Cirnigliaro2023 G

SLC10A1

AU2123301

chr14:
70339157-70339157

C

A

intergenic

De novo

-

-

Yuen2017 G

SLC10A1

AU2793301

chr14:
70245940-70245944

CAGAA

C

exonic

Paternal

frameshift deletion

NM_003049

c.701_704del

p.F234fs

-

Cirnigliaro2023 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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