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Details for CYP21A2:c.1360C>T, p.Pro454Ser

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
32008783	32041006

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1360C>T

PROTEIN CHANGE

p.Pro454Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0018	0.0008	0.0029	0.0	0.006	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004597	0.001141	0.003204	0.0003646	0.0	0.002957	0.009017	0.003861	0.0007873

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.028357	Disease causing

DBSNP ID

1 combination linked to CYP21A2:c.1360C>T, p.Pro454Ser

1 disease linked to CYP21A2:c.1360C>T, p.Pro454Ser

Primary ovarian failure

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