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Details for STS:c.770A>G, p.Tyr257Cys

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
7177762	7259721

VARIANT EFFECT

missense

ANNOTATION FLAG

ambiguous_variant

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

ENST00000217961.4

CDNA CHANGE

c.770A>G

PROTEIN CHANGE

p.Tyr257Cys

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	1.947731	None

DBSNP ID

1 combination linked to STS:c.770A>G, p.Tyr257Cys

1 disease linked to STS:c.770A>G, p.Tyr257Cys

Normosmic congenital hypogonadotropic hypogonadism

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