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Details for DHX37:c.2995G>A, p.Val999Met

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
125435085	124950539

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2995G>A

PROTEIN CHANGE

p.Val999Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.003	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002664	0.002396	3.911e-05	0.0	0.0001188	0.0	0.0001397	0.0002184	4.917e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.565702	Polymorphism

DBSNP ID

1 combination linked to DHX37:c.2995G>A, p.Val999Met

1 disease linked to DHX37:c.2995G>A, p.Val999Met

46,XY disorder of sex development

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