LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000072)
Patient ID RB11
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype not reported
family history -
Reference Blanquet et al., 1995
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.59695C>T
cDNA change c.763C>T
Type substitution
Exon 08_ex
RNA change -
Protein p.Arg255X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00063
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.59695C>T c.763C>T substitution 08_ex - p.Arg255X - nonsense RB1_00063 -

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