LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002134)
Patient ID 17
Phenotype bilateral rb
Mut. origin -
Tissue retinoblastoma
Template DNA
tumor-genotype -
family history -
Reference Van Orsouw et al. (1996) Hum Mol Genet 5: 755
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.56864C>T
cDNA change c.619C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 07_ex
RNA change -
Protein p.Gln207X
RBWiki -
expected consequence type nonsense
DB-ID RB1_01190
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.56864C>T c.619C>T substitution 07_ex - p.Gln207X - nonsense RB1_01190 -

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