LOVD - Variant listings for RB1

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Patient data (#0001844)
Patient ID Fam539
Phenotype bilateral rb
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history isolated
Reference not reported, BL Gallie - Toronto rs4151418
# Reported 1
Published unpublished
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.1718C>T
cDNA change c.-342C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 00_up
RNA change -
Protein variant
RBWiki -
expected consequence type variant
DB-ID RB1_00953
originated_in -

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.1718C>T c.-342C>T substitution 00_up - variant - variant RB1_00953 -

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