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Details for SRA1:c.190C>A, p.Pro64Thr

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
139931767	140552182

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.190C>A

PROTEIN CHANGE

p.Pro64Thr

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	Benign	1.529689	Polymorphism

DBSNP ID

1 combination linked to SRA1:c.190C>A, p.Pro64Thr

1 disease linked to SRA1:c.190C>A, p.Pro64Thr

Congenital hypogonadotropic hypogonadism

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