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Details for MPDZ:c.2344G>A, p.Gly782Arg

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
13188803	13188804

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2344G>A

PROTEIN CHANGE

p.Gly782Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0036	0.003	0.0086	0.0	0.008	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002593	0.003038	0.003537	0.02961	0.0	0.0	0.001291	0.005476	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.816503	Polymorphism

DBSNP ID

1 combination linked to MPDZ:c.2344G>A, p.Gly782Arg

1 disease linked to MPDZ:c.2344G>A, p.Gly782Arg

Syndrome with 46,XY disorder of sex development

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