LOVD - Variant listings for RB1

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Patient data (#0000978)
Patient ID ID068
Phenotype unilateral rb
Mut. origin somatic
Tissue retinoblastoma
Template DNA
tumor-genotype heterozygous
family history -
Reference Nichols et al. (2005) Hum Mutat 25(6): 566-74.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.150117G>A
cDNA change c.1814+1G>A   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 18_in
RNA change simple skip
Protein simple skip
RBWiki -
expected consequence type splice
DB-ID RB1_00274
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>A c.1814+1G>A substitution 18_in simple skip simple skip - splice RB1_00274 -

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