LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000918)
Patient ID not provided
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history isolated
Reference Nichols et al. (2005) Hum Mutat 25(6): 566-74.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2101C>T
cDNA change c.42C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 01_ex
RNA change -
Protein p.Ala14Ala
RBWiki Ala14Ala
expected consequence type variant
DB-ID RB1_00023
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.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 -

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