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Details for CCDC141:c.1979G>A, p.Arg660Gln

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179736960	178872233

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1979G>A

PROTEIN CHANGE

p.Arg660Gln

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
7.961e-06	0.0	2.895e-05	0.0	0.0	0.0	0.0	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.87973	Polymorphism

DBSNP ID

1 combination linked to CCDC141:c.1979G>A, p.Arg660Gln

1 disease linked to CCDC141:c.1979G>A, p.Arg660Gln

46,XY disorder of sex development

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