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Details for CC2D2A:c.2778_2782del, p.Asn926LysfsTer7

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
15559077	15557454

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

AATTAT

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2778_2782del

PROTEIN CHANGE

p.Asn926LysfsTer7

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	4.832454	Disease causing

DBSNP ID

1 combination linked to CC2D2A:c.2778_2782del, p.Asn926LysfsTer7

1 disease linked to CC2D2A:c.2778_2782del, p.Asn926LysfsTer7

Meckel syndrome

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