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Details for CCDC141:c.3098dupT, p.Val1033fs

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179718313	178853586

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

TA

TRANSCRIPT

CDNA CHANGE

c.3098dupT

PROTEIN CHANGE

p.Val1033fs

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
None	None	5.12221	Disease causing

DBSNP ID

1 combination linked to CCDC141:c.3098dupT, p.Val1033fs

1 disease linked to CCDC141:c.3098dupT, p.Val1033fs

46,XY disorder of sex development

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