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Details for SLC26A4:c.1337A>G, p.Gln446Arg

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
107334921	107694476

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1337A>G

PROTEIN CHANGE

p.Gln446Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
7.578e-05	0.0	0.0	0.0	0.0	0.0	8.838e-06	0.0	0.000588

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.924463	Disease causing

DBSNP ID

3 combinations linked to SLC26A4:c.1337A>G, p.Gln446Arg

OLI1100; OLI1102; OLI1103

1 disease linked to SLC26A4:c.1337A>G, p.Gln446Arg

Rare genetic deafness

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