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Details for DMXL2:c.6067C>G, p.Pro2023Ala

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
51773236	51481039

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.6067C>G

PROTEIN CHANGE

p.Pro2023Ala

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
Tolerated	Benign	1.121806	Polymorphism

DBSNP ID

1 combination linked to DMXL2:c.6067C>G, p.Pro2023Ala

1 disease linked to DMXL2:c.6067C>G, p.Pro2023Ala

Hypogonadotropic hypogonadism with absent puberty phenotype

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