LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0001122)
Patient ID E1122
Phenotype bilateral rb
Mut. origin germline
Tissue nd
Template DNA
tumor-genotype -
family history isolated
Reference Lohmann - Essen
# Reported 1
Published unpublished
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.76920del
cDNA change c.1421del   (View in UCSC Genome Browser, Ensembl)
Type complex
Exon 15_ex
RNA change altered splicing
Protein -
RBWiki -
expected consequence type splice
DB-ID RB1_00245
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.76920del c.1421del complex 15_ex altered splicing - - splice RB1_00245 -

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