LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000315)
Patient ID LuC167C
Phenotype other tumor
Mut. origin somatic
Tissue LuSquamoCa
Template DNA
tumor-genotype -
family history -
Reference Sachse et al., 1994
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.39468del
cDNA change c.287del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 03_ex
RNA change -
Protein p.Lys96Argfs*15
RBWiki -
expected consequence type frameshift
DB-ID RB1_00037
originated_in unknown

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.39468del c.287del deletion 03_ex - p.Lys96Argfs*15 - frameshift RB1_00037 unknown

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