LOVD - Variant listings for RB1

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Patient data (#0003123)
Patient ID E5991
Phenotype unilateral rb
Mut. origin somatic
Tissue retinoblastoma
Template DNA
tumor-genotype LOH
family history isolated
Reference Lohmann, Germany:Essen
# Reported 1
Published unpublished
Remarks -
Submitter Dietmar Lohmann

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
g-position g.76579T>C
cDNA change c.1382T>C   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 14_ex
RNA change -
Protein p.Leu461Pro
RBWiki -
expected consequence type missense
DB-ID RB1_01851
originated_in somatic

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.76579T>C c.1382T>C Substitution 14_ex - p.Leu461Pro - missense RB1_01851 somatic

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