LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000089)
Patient ID Nidp
Phenotype other tumor
Mut. origin somatic
Tissue ProstateCa
Template DNA
tumor-genotype -
family history -
Reference Bookstein et al., 1990
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.160766A>T
cDNA change c.2143A>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 21_ex
RNA change -
Protein p.Lys715X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00161
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.160766A>T c.2143A>T substitution 21_ex - p.Lys715X - nonsense RB1_00161 -

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