LOVD - Variant listings for RB1

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Patient data (#0002571)
Patient ID E5569
Phenotype bilateral rb
Mut. origin unknown
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Published unpublished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.65438T>G
cDNA change c.1124T>G   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 11_ex
RNA change c.1124_1126del
Protein p.Val375Gly/splice
RBWiki -
expected consequence type splice
DB-ID RB1_01463
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.65438T>G c.1124T>G Substitution 11_ex c.1124_1126del p.Val375Gly/splice - splice RB1_01463 germline

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