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Details for SRA1:c.536T>C, p.Ile179Thr

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
139930460	140550875

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.536T>C

PROTEIN CHANGE

p.Ile179Thr

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
0.0008415	0.0	0.0007227	0.009331	0.0	0.0	0.0006705	0.002121	9.799e-05

ESP
AA	EA
0.0	0.000814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.888231	Disease causing

DBSNP ID

1 combination linked to SRA1:c.536T>C, p.Ile179Thr

1 disease linked to SRA1:c.536T>C, p.Ile179Thr

Congenital hypogonadotropic hypogonadism

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