LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000787)
Patient ID not provided
Phenotype unilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history isolated
Reference Houdayer et al. (2004) Hum Mutat 23(2): 193-202.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2118C>T
cDNA change c.59C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 01_ex
RNA change -
Protein p.Pro20Leu
RBWiki Pro20Leu
expected consequence type missense
DB-ID RB1_00493
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.2118C>T c.59C>T substitution 01_ex - p.Pro20Leu Pro20Leu missense RB1_00493 -

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