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Details for POR:c.683C>T, p.Pro228Leu

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
75610876	75981558

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.683C>T

PROTEIN CHANGE

p.Pro228Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0029	0.0	0.0089	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00248	0.0009285	0.0007577	0.001308	0.0	0.002089	0.004433	0.002346	0.0001971

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.524709	Disease causing

DBSNP ID

1 combination linked to POR:c.683C>T, p.Pro228Leu

1 disease linked to POR:c.683C>T, p.Pro228Leu

Syndrome with 46,XY disorder of sex development

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