LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000165)
Patient ID TS29
Phenotype rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype not reported
family history familial
Reference Liu et al., 1995
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.64429_64442del
cDNA change c.1039_1049+3del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 10_ex
RNA change altered splicing
Protein -
RBWiki -
expected consequence type splice
DB-ID RB1_00076
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.64429_64442del c.1039_1049+3del deletion 10_ex altered splicing - - splice RB1_00076 -

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