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Details for DMXL2:c.6046G>A, p.Asp2016Asn

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
51773257	51481060

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.6046G>A

PROTEIN CHANGE

p.Asp2016Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001755	0.0006768	0.0003183	0.0002977	0.0	0.001109	0.003264	0.001796	0.0003268

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.017296	Polymorphism

DBSNP ID

1 combination linked to DMXL2:c.6046G>A, p.Asp2016Asn

1 disease linked to DMXL2:c.6046G>A, p.Asp2016Asn

Hypogonadotropic hypogonadism with absent puberty phenotype

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