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Details for HSD17B6:c.830C>T, p.Pro277Leu

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
57181002	56787218

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.830C>T

PROTEIN CHANGE

p.Pro277Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002068	0.0	0.0001445	0.00129	0.0004893	0.0	0.000211	0.0001629	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.261883	Polymorphism

DBSNP ID

2 combinations linked to HSD17B6:c.830C>T, p.Pro277Leu

OLI1528; OLI1557

2 diseases linked to HSD17B6:c.830C>T, p.Pro277Leu

46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development

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