LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003163)
Patient ID Supp_Tab_Mt-28
Phenotype -
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference Price et al., 2013
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.56905_56906delAT
cDNA change c.660_661delAT   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 07_ex
RNA change -
Protein p.(Val222Profs*2)
RBWiki -
expected consequence type frameshift
DB-ID RB1_01891
originated_in unknown

1 entry in RB1

Path.
Allele Descending
Ascending
g-position Descending
Ascending
cDNA change Descending
Ascending
Type Descending
Ascending
Exon Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
RBWiki Descending
Ascending
expected consequence type Descending
Ascending
DB-ID Descending
Ascending
originated_in Descending
Ascending
?/? Unknown g.56905_56906delAT c.660_661delAT Deletion 07_ex - p.(Val222Profs*2) - frameshift RB1_01891 unknown

Please help to improve the quality of the data and report any error that you may find!