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Details for MAML3:c.2969C>T, p.Pro990Leu

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
140640910	139719756

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2969C>T

PROTEIN CHANGE

p.Pro990Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0	0.004	0.0	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001609	0.0	0.0001161	0.0	0.001058	0.0	7.98e-05	0.0001656	0.000229

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.976582	Polymorphism

DBSNP ID

1 combination linked to MAML3:c.2969C>T, p.Pro990Leu

1 disease linked to MAML3:c.2969C>T, p.Pro990Leu

46,XY disorder of sex development

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