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Details for MAMLD1:c.2573C>T, p.Pro858Leu

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
149680919	150512649

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2573C>T

PROTEIN CHANGE

p.Pro858Leu

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
5.367e-05	0.0	0.0002119	0.0	0.0	0.0	2.664e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.129275	Polymorphism

DBSNP ID

2 combinations linked to MAMLD1:c.2573C>T, p.Pro858Leu

OLI1522; OLI1578

2 diseases linked to MAMLD1:c.2573C>T, p.Pro858Leu

46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development

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