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Details for DENND1A:c.2351C>A, p.Ala784Asp

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
126144390	123382111

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2351C>A

PROTEIN CHANGE

p.Ala784Asp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0032	0.0	0.0101	0.0	0.0089	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005068	0.001491	0.004726	0.003818	0.0	0.001035	0.008087	0.009362	0.001886

ESP
AA	EA
0.001828	0.009476

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.094248	Polymorphism

DBSNP ID

1 combination linked to DENND1A:c.2351C>A, p.Ala784Asp

1 disease linked to DENND1A:c.2351C>A, p.Ala784Asp

Disorder of sex development

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