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Details for MAMLD1:c.1793G>A, p.Arg598His

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
149639713	150471441

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1793G>A

PROTEIN CHANGE

p.Arg598His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.003	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001156	0.0009878	0.0002187	0.0	0.0	0.0	2.498e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.242173	Polymorphism

DBSNP ID

1 combination linked to MAMLD1:c.1793G>A, p.Arg598His

1 disease linked to MAMLD1:c.1793G>A, p.Arg598His

Syndrome with 46,XY disorder of sex development

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