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Details for GJB2:c.427C>T, p.Arg143Trp

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
20763294	20189155

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.427C>T

PROTEIN CHANGE

p.Arg143Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001156	0.0007405	8.677e-05	0.0	0.0001088	0.0001388	5.293e-05	0.0	9.801e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.032187	Disease causing

DBSNP ID

2 combinations linked to GJB2:c.427C>T, p.Arg143Trp

OLI1313; OLI1315

1 disease linked to GJB2:c.427C>T, p.Arg143Trp

Rare genetic deafness

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