LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003367)
Patient ID E6458
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype heterozygous
family history isolated
Reference Lohmann, Germany:Essen
# Reported 1
Published unpublished
Remarks -
Submitter Dietmar Lohmann

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
g-position g.162367G>T
cDNA change c.2489G>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 23_ex
RNA change -
Protein p.(Arg830Ile)/splice mutation
RBWiki -
expected consequence type splice
DB-ID RB1_02055
originated_in germline

2 entries 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.65405A>C c.1091A>C Substitution 11_ex - p.(Glu364Ala) - missense RB1_02056 germline
+?/+? Unknown g.162367G>T c.2489G>T Substitution 23_ex - p.(Arg830Ile)/splice mutation - splice RB1_02055 germline

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