LOVD - Variant listings for RB1

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Patient data (#0002544)
Patient ID nd
Phenotype unilateral rb
Mut. origin -
Tissue tumor + blood
Template DNA
tumor-genotype -
family history -
Reference -
# Reported 1
Published -
Remarks In tumour + blood DNA of unilateral patient and unaffected father, tumour has two other deleterious mutations not present in patient?s blood DNA

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Probably no pathogenicity
g-position g.2127C>T
cDNA change c.68C>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 01_ex
RNA change -
Protein p.Pro23Leu
RBWiki [Pro23Leu]
expected consequence type unknown
DB-ID RB1_01456
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.2127C>T c.68C>T Substitution 01_ex - p.Pro23Leu [Pro23Leu] unknown RB1_01456 -

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