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 MAML2:c.385G>A, p.Asp129Asn

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
96074675	96341511

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.385G>A

PROTEIN CHANGE

p.Asp129Asn

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
8.55e-05	0.0	0.0	0.0	0.001101	0.0	1.736e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.47559	Polymorphism

DBSNP ID

1 combination linked to MAML2:c.385G>A, p.Asp129Asn

1 disease linked to MAML2:c.385G>A, p.Asp129Asn

46,XY disorder of sex development

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