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 MAMLD1:c.1986C>G, p.Ser662Arg

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
149680332	150512062

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1986C>G

PROTEIN CHANGE

p.Ser662Arg

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
Deleterious	Benign	1.052305	None

DBSNP ID

1 combination linked to MAMLD1:c.1986C>G, p.Ser662Arg

1 disease linked to MAMLD1:c.1986C>G, p.Ser662Arg

46,XY disorder of sex development

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