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Details for DHX37:c.1460G>A, p.Arg487His

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
125451713	124967167

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1460G>A

PROTEIN CHANGE

p.Arg487His

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
3.595e-05	6.191e-05	0.0	0.0	0.0	0.0	4.422e-05	0.0001638	6.536e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.243228	Disease causing

DBSNP ID

1 combination linked to DHX37:c.1460G>A, p.Arg487His

1 disease linked to DHX37:c.1460G>A, p.Arg487His

Syndrome with 46,XY disorder of sex development

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