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Details for MAMLD1:c.2780G>T, p.Arg927Leu

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
149681126	150512856

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2780G>T

PROTEIN CHANGE

p.Arg927Leu

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
2.003e-05	0.0	0.0	0.0	0.0002554	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.148981	None

DBSNP ID

1 combination linked to MAMLD1:c.2780G>T, p.Arg927Leu

1 disease linked to MAMLD1:c.2780G>T, p.Arg927Leu

46,XY disorder of sex development

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