LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000341)
Patient ID KS-152
Phenotype other tumor
Mut. origin -
Tissue osteosarcoma
Template DNA
tumor-genotype heterozygous
family history -
Reference Wadayama et al., 1994
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.76993del
cDNA change c.1422-8del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 15_in
RNA change -
Protein unkown
RBWiki -
expected consequence type -
DB-ID RB1_01307
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.76993del c.1422-8del deletion 15_in - unkown - - RB1_01307 -

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