LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0001438)
Patient ID E3757
Phenotype bilateral rb
Mut. origin germline
Tissue nd
Template DNA
tumor-genotype -
family history isolated
Reference Lohmann - Essen
# Reported 1
Published unpublished
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.70309_70310del
cDNA change c.1195_1196del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 12_ex
RNA change -
Protein p.Asn399Serfs*6
RBWiki -
expected consequence type frameshift
DB-ID RB1_00478
originated_in germline

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.70309_70310del c.1195_1196del deletion 12_ex - p.Asn399Serfs*6 - frameshift RB1_00478 germline

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