LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0001992)
Patient ID not provided
Phenotype no cancer
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history -
Reference Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
g-position g.5625T>C
cDNA change c.264+75T>C   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 02_in
RNA change -
Protein variant
RBWiki -
expected consequence type variant
DB-ID RB1_01005
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.5625T>C c.264+75T>C substitution 02_in - variant - variant RB1_01005 -

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