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Details for EVC:c.1653G>A, p.Pro551=

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
5785368	5783641

VARIANT EFFECT

silent

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1653G>A

PROTEIN CHANGE

p.Pro551=

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0023	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000163	0.001661	0.0001156	0.0	0.0	0.0	4.396e-05	0.0001629	0.0001307

ESP
AA	EA
0.002951	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.528086	Polymorphism

DBSNP ID

1 combination linked to EVC:c.1653G>A, p.Pro551=

1 disease linked to EVC:c.1653G>A, p.Pro551=

Disorder of sex development

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