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Details for MAMLD1:c.1804T>C, p.Ser602Pro

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
149639724	150471452

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1804T>C

PROTEIN CHANGE

p.Ser602Pro

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
5.507e-06	0.0	3.646e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.217691	Polymorphism

DBSNP ID

2 combinations linked to MAMLD1:c.1804T>C, p.Ser602Pro

OLI1547; OLI1548

1 disease linked to MAMLD1:c.1804T>C, p.Ser602Pro

46,XY disorder of sex development

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