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Details for DHCR24:c.1046C>G, p.Pro349Arg

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
55319882	54854209

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1046C>G

PROTEIN CHANGE

p.Pro349Arg

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
3.994e-06	0.0	0.0	0.0	0.0	0.0	8.848e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.710875	Disease causing

DBSNP ID

1 combination linked to DHCR24:c.1046C>G, p.Pro349Arg

1 disease linked to DHCR24:c.1046C>G, p.Pro349Arg

Primary ovarian failure

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