LOVD - Variant listings for RB1

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Patient data (#0001233)
Patient ID E2076
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Published unpublished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.2104_2129del
cDNA change c.45_70del   (View in UCSC Genome Browser, Ensembl)
Type deletion
Exon 01_ex
RNA change -
Protein p.Glu19Profs*3
RBWiki -
expected consequence type frameshift
DB-ID RB1_00318
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.2104_2129del c.45_70del deletion 01_ex - p.Glu19Profs*3 - frameshift RB1_00318 germline

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