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Details for MPDZ:c.4124T>C, p.Val1375Ala

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
13138032	13138033

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.4124T>C

PROTEIN CHANGE

p.Val1375Ala

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
2.41e-05	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0001962

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.961097	Disease causing

DBSNP ID

5 combinations linked to MPDZ:c.4124T>C, p.Val1375Ala

OLI1100; OLI1101; OLI1102; OLI1103; OLI1104

1 disease linked to MPDZ:c.4124T>C, p.Val1375Ala

Rare genetic deafness

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