LOVD - Variant listings for RB1

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Patient data (#0002547)
Patient ID E5520
Phenotype unilateral rb
Mut. origin somatic
Tissue retinoblastoma
Template DNA
tumor-genotype hemi/homozygous
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Published unpublished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.56894C>T
cDNA change c.649C>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 07_ex
RNA change -
Protein p.Gln217X
RBWiki -
expected consequence type nonsense
DB-ID RB1_01457
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.56894C>T c.649C>T Substitution 07_ex - p.Gln217X - nonsense RB1_01457 -

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