LOVD - Variant listings for RB1

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Patient data (#0002745)
Patient ID 449
Phenotype bilateral rb
Mut. origin germline
Tissue leukocytes
Template DNA
tumor-genotype unknown
family history isolated
Reference Argentina: Buenos Aires
# Reported 1
Published unpublished
Remarks -
Submitter Irene Szijan

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
g-position g.1863G>A
cDNA change c.-197G>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon Prom
RNA change -
Protein -
RBWiki -
expected consequence type promoter
DB-ID RB1_00928
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.1863G>A c.-197G>A Substitution Prom - - - promoter RB1_00928 germline

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