LOVD - Variant listings for RB1

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Patient data (#0003134)
Patient ID E3962
Phenotype bilateral rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype unknown
family history isolated
Reference Lohmann, Germany:Essen
# Reported 1
Published unpublished
Remarks -
Submitter Dietmar Lohmann

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
g-position g.2091_2122del
cDNA change c.32_63del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 01_ex
RNA change -
Protein p.(Ala11Glyfs*9)
RBWiki -
expected consequence type frameshift
DB-ID RB1_00724
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.2091_2122del c.32_63del Deletion 01_ex - p.(Ala11Glyfs*9) - frameshift RB1_00724 germline

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