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

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
139930424	140550839

VARIANT EFFECT

None

ANNOTATION FLAG

None

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.09726	Disease causing

DBSNP ID

2 combinations linked to SRA1:c.536T>C, p.Ile179Thr

OLI1565; OLI1580

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

Syndrome with 46,XY disorder of sex development

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