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Details for DMXL2:c.812C>G, p.Thr271Ser

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
51837898	51545701

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.812C>G

PROTEIN CHANGE

p.Thr271Ser

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
4.788e-05	0.0	0.0	0.0	0.0	0.0	0.0001061	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.395997	Polymorphism

DBSNP ID

1 combination linked to DMXL2:c.812C>G, p.Thr271Ser

1 disease linked to DMXL2:c.812C>G, p.Thr271Ser

Hypogonadotropic hypogonadism with partial puberty phenotype

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