LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002551)
Patient ID 23 808
Phenotype bilateral rb
Mut. origin unknown
Tissue nd
Template DNA
tumor-genotype unknown
family history familial
Reference Munier - Lausanne
# Reported 1
Published -
Remarks



Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2175delC
cDNA change c.115delC   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 01_ex
RNA change -
Protein -
RBWiki -
expected consequence type unknown
DB-ID RB1_01460
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.2175delC c.115delC Deletion 01_ex - - - unknown RB1_01460 -

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