LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002815)
Patient ID S81307
Phenotype other cancer
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference Ikeda et al ,1995, COSM1046
# Reported 1
Published published
Remarks benign / tolerated

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.153254C>A
cDNA change c.1861C>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 19_ex
RNA change -
Protein p.Arg621Ser
RBWiki -
expected consequence type missense
DB-ID RB1_01573
originated_in somatic

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.153254C>A c.1861C>A Substitution 19_ex - p.Arg621Ser - missense RB1_01573 somatic

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