This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for DMXL2:c.4187C>T, p.Ser1396Phe

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
51791234	51499037

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.4187C>T

PROTEIN CHANGE

p.Ser1396Phe

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0014	0.0	0.002	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001609	0.0004306	0.0004626	0.0007938	0.0	0.000373	0.00293	0.0009791	0.0008495

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.997193	Polymorphism

DBSNP ID

1 combination linked to DMXL2:c.4187C>T, p.Ser1396Phe

1 disease linked to DMXL2:c.4187C>T, p.Ser1396Phe

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

Found any issues with the data on this page? Report this entry.