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Details for FREM2:c.9472dupC, p.Gln3160ThrfsTer6

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
39454886	38880749

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

CC

TRANSCRIPT

CDNA CHANGE

c.9472dupC

PROTEIN CHANGE

p.Gln3160ThrfsTer6

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	4.470818	Disease causing

DBSNP ID

1 combination linked to FREM2:c.9472dupC, p.Gln3160ThrfsTer6

1 disease linked to FREM2:c.9472dupC, p.Gln3160ThrfsTer6

Disorder of sex development

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