LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002572)
Patient ID E2150
Phenotype bilateral rb
Mut. origin germline
Tissue tumor
Template DNA
tumor-genotype heterozygous
family history isolated
Reference Germany:Essen
# Reported 1
Published -
Remarks new germline mutation
Submitter Dietmar Lohmann

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.76430C>T
cDNA change c.1333C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 14_ex
RNA change -
Protein p.Arg445X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00003
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.76430C>T c.1333C>T substitution 14_ex - p.Arg445X - nonsense RB1_00003 germline
?/? Unknown g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 somatic

Please help to improve the quality of the data and report any error that you may find!