LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0001544)
Patient ID E2336T
Phenotype -
Mut. origin somatic
Tissue retinoblastoma
Template DNA
tumor-genotype heterozygous
family history isolated
Reference Lohmann - Essen
# Reported 1
Published unpublished
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.70261dup
cDNA change c.1147dup   (View in UCSC Genome Browser, Ensembl)
Type insertion
Exon 12_ex
RNA change -
Protein p.Gln383Profs*12
RBWiki -
expected consequence type frameshift
DB-ID RB1_00367
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.70261dup c.1147dup insertion 12_ex - p.Gln383Profs*12 - frameshift RB1_00367 unknown

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