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Details for DMXL2:c.7179_7181del, p.Val2394del

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
51766572	51474375

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CACA

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.7179_7181del

PROTEIN CHANGE

p.Val2394del

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.23655	Polymorphism

DBSNP ID

1 combination linked to DMXL2:c.7179_7181del, p.Val2394del

1 disease linked to DMXL2:c.7179_7181del, p.Val2394del

Hypogonadotropic hypogonadism with absent puberty phenotype

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