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.1066C>T, p.Arg356Ter

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
149638986	150470714

VARIANT EFFECT

nonsense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1066C>T

PROTEIN CHANGE

p.Arg356Ter

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
5.491e-06	0.0	0.0	0.0	0.0	0.0	1.239e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.457566	Disease causing

DBSNP ID

2 combinations linked to MAMLD1:c.1066C>T, p.Arg356Ter

1 disease linked to MAMLD1:c.1066C>T, p.Arg356Ter

46,XY disorder of sex development

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