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Details for CCDC141:c.3782C>T, p.Ala1261Val

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179702164	178837437

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3782C>T

PROTEIN CHANGE

p.Ala1261Val

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
0.0001078	0.0	0.0001158	0.000199	0.0	0.0	0.0001416	0.0003274	9.801e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.770712	Polymorphism

DBSNP ID

1 combination linked to CCDC141:c.3782C>T, p.Ala1261Val

1 disease linked to CCDC141:c.3782C>T, p.Ala1261Val

46,XY disorder of sex development

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