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Details for MAMLD1:c.2170C>G, p.Leu724Val

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
149671673	150503403

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2170C>G

PROTEIN CHANGE

p.Leu724Val

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.866625	None

DBSNP ID

1 combination linked to MAMLD1:c.2170C>G, p.Leu724Val

1 disease linked to MAMLD1:c.2170C>G, p.Leu724Val

Disorder of sex development

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