LOVD - Variant listings for RB1

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Patient data (#0003417)
Patient ID E6717
Phenotype unilateral 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Published unpublished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 Probably pathogenic
Concluded pathogenicity Probably pathogenic
g-position g.45843T>C
cDNA change c.583T>C
Type Substitution
Exon 06_ex
RNA change -
Protein p.Trp195Arg
RBWiki -
expected consequence type missense
DB-ID RB1_02101
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.45843T>C c.583T>C Substitution 06_ex - p.Trp195Arg - missense RB1_02101 germline

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