This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for CRB2:c.3089_3104dup, p.Gly1036fs

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
126135887	123373608

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

TGGCGCGGCCCCGGCCC

TRANSCRIPT

N.A.

CDNA CHANGE

c.3089_3104dup

PROTEIN CHANGE

p.Gly1036fs

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	3.767811	Disease causing

DBSNP ID

1 combination linked to CRB2:c.3089_3104dup, p.Gly1036fs

1 disease linked to CRB2:c.3089_3104dup, p.Gly1036fs

Transposition of the great arteries

Found any issues with the data on this page? Report this entry.