LOVD - Variant listings for RB1

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Patient data (#0000604)
Patient ID Fam480
Phenotype bilateral rb
Mut. origin germline
Tissue nd
Template DNA
tumor-genotype -
family history isolated
Reference Richter et al. (2003) Am J Hum Genet 72(2): 253-69.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.76888G>C
cDNA change c.1390-1G>C   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 14_in
RNA change altered splicing
Protein -
RBWiki -
expected consequence type splice
DB-ID RB1_00817
originated_in germline

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.76888G>C c.1390-1G>C substitution 14_in altered splicing - - splice RB1_00817 germline

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