Variant Results

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Results for "SLC9A7"

Variant Events: 13

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

SLC9A7

AU3794301

chrX:
46687126-46687127

GA

GAAAGAAA

intergenic

De novo

-

-

Yuen2017 G

SLC9A7

AU3175302

chrX:
46519008-46519016

CCAACAACA

CCAACA

intronic

De novo

-

-

Yuen2017 G

SLC9A7

1-0466-003

chrX:
46598560-46598560

T

G

intronic

De novo

-

-

Yuen2017 G

SLC9A7

1-0820-003

chrX:
46635177-46635198

TTCCTTCCTTTCTTTCTTTCCT

TT

intergenic

De novo

-

-

Yuen2017 G

SLC9A7

1-0651-003

chrX:
46661853-46661863

CTTTTTTTTTT

CTTTTTTTTT

intergenic

De novo

-

-

Yuen2017 G

SLC9A7

AU3645301

chrX:
46469161-46469170

CAAAAAAAAA

CAAAAAAAA

intronic

De novo

-

-

Yuen2017 G

SLC9A7

AU045514

chrX:
46607857-46607861

CAGAA

C

intronic

De novo

-

-

Yuen2017 G

SLC9A7

1-0757-003

chrX:
46597519-46597546

AAAGAAAGAAAGAAAGAAAGAAAGAGAA

AAA

intronic

De novo

-

-

Yuen2017 G

SLC9A7

AU4183301

chrX:
46597515-46597546

AAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA

AAA

intronic

De novo

-

-

Yuen2017 G

SLC9A7

AU3763305

chrX:
46597542-46597546

GAGAA

GA

intronic

De novo

-

-

Yuen2017 G

SLC9A7

AU4029301

chrX:
46597511-46597546

AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA

AAA

intronic

De novo

-

-

Yuen2017 G

SLC9A7

AU2019302

chrX:
46528341-46528341

A

G

intronic

De novo

-

-

Yuen2017 G

SLC9A7

Chen2021:20

chrX:
46513159-46513159

C

G

splicing

Maternal

splicing

9.89

Chen2021 GET

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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