LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002427)
Patient ID FUMI07
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template RNA
tumor-genotype heterozygous
family history unknown
Reference Berge et al. (2010) Mol Cancer. 2010 Jul 1;9:173.
# Reported 1
Published published
Remarks isolated breast cancer

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
g-position g.153212C>A
cDNA change c.1819C>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 19_ex
RNA change -
Protein p.Leu607Ile
RBWiki -
expected consequence type missense
DB-ID RB1_01391
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.153212C>A c.1819C>A Substitution 19_ex - p.Leu607Ile - missense RB1_01391 -

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