LOVD - Variant listings for RB1

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Patient data (#0000295)
Patient ID G1111
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history isolated
Reference Lohmann et al., 1996
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.150117G>C
cDNA change c.1814+1G>C   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 18_in
RNA change altered splicing
Protein -
RBWiki -
expected consequence type splice
DB-ID RB1_00212
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.150117G>C c.1814+1G>C substitution 18_in altered splicing - - splice RB1_00212 -

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