Variant Results

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Results for "SLC26A4"

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

SLC26A4

GEA389

chr7:
107341620-107341620

T

A

exonic

De novo

nonsynonymous SNV

NM_000441

c.T1782A

p.S594R

12.61

-

Fu2022 E

SLC26A4

2-1391-004

chr7:
107367895-107367895

C

CTCTCCTCTCCT

intergenic

De novo

-

-

Yuen2017 G

SLC26A4

SP0000972

chr7:
107323684-107323684

A

G

exonic

De novo

nonsynonymous SNV

NM_000441

c.A803G

p.N268S

23.8

Feliciano2019 E
Fu2022 E

SLC26A4

2-1174-005B

chr7:
107367895-107367895

C

CTCTCCTCTCCT

intergenic

De novo

-

-

Yuen2017 G

SLC26A4

SP0114498

chr7:
107350528-107350528

G

A

exonic

De novo

nonsynonymous SNV

NM_000441

c.G2119A

p.G707R

14.66

-

Fu2022 E

SLC26A4

Lee2020:138

chr7:
107323898-107323898

A

G

splicing

splicing

19.62

Lee2020 T

SLC26A4

1-0534-006

chr7:
107377986-107377986

C

T

intergenic

De novo

-

-

Yuen2017 G

SLC26A4

Lee2020:138

chr7:
107350577-107350577

A

G

exonic

nonsynonymous SNV

NM_000441

c.A2168G

p.H723R

21.2

Lee2020 T

SLC26A4

Hu2022:6

chr7:
107330645-107330645

G

A

exonic

Paternal

nonsynonymous SNV

NM_000441

c.G1226A

p.R409H

29.6

Hu2022 T

SLC26A4

Hu2022:6

chr7:
107350577-107350577

A

G

exonic

Maternal

nonsynonymous SNV

NM_000441

c.A2168G

p.H723R

21.2

Hu2022 T

SLC26A4

iHART1462

chr7:
107323898-107323898

A

G

splicing

Paternal

splicing

19.62

Ruzzo2019 G

SLC26A4

1-0395-004

chr7:
107367886-107367886

C

CCTCCCCTCTCCTCTCCTTTCCTTGACAGGATCTCCTCTCTT

intergenic

De novo

-

-

Yuen2017 G

SLC26A4

1-0683-004

chr7:
107367882-107367882

T

TCTCTTC

intergenic

De novo

-

-

Yuen2017 G

SLC26A4

1-0253-005

chr7:
107367890-107367890

C

CTCT

intergenic

De novo

-

-

Yuen2017 G

SLC26A4

AU3790302

chr7:
107369050-107369050

T

G

intergenic

De novo

-

-

Yuen2017 G

SLC26A4

AU3807302

chr7:
107321260-107321260

G

T

intronic

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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