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Details for FSHR:c.1532A>G, p.Tyr511Cys

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
49190428	48963289

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1532A>G

PROTEIN CHANGE

p.Tyr511Cys

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
3.994e-06	0.0	0.0	0.0	0.0	0.0	8.853e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.104846	Disease causing

DBSNP ID

1 combination linked to FSHR:c.1532A>G, p.Tyr511Cys

1 disease linked to FSHR:c.1532A>G, p.Tyr511Cys

Disorder of sex development

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