LOVD - Variant listings for RB1

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Patient data (#0002736)
Patient ID rs121908691
Phenotype -
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference dbSNP
# Reported 1
Published -
Remarks precious

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.59764dup
cDNA change c.832dup   (View in UCSC Genome Browser, Ensembl)
Type Insertion
Exon 8
RNA change -
Protein p.Cys278Leufs*2
RBWiki -
expected consequence type frameshift
DB-ID RB1_01422
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.59764dup c.832dup Insertion 8 - p.Cys278Leufs*2 - frameshift RB1_01422 unknown

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