LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002327)
Patient ID RB-203/fRB-35
Phenotype unilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history familial
Reference Sanchez-Sanchez et al. (2007) Hum Mutat 28: 159
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2102_2124del
cDNA change c.43_65del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 01_ex
RNA change -
Protein -
RBWiki -
expected consequence type -
DB-ID RB1_01336
originated_in -

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.2102_2124del c.43_65del deletion 01_ex - - - - RB1_01336 -

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