LOVD - Variant listings for RB1

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Patient data (#0002563)
Patient ID 24 150
Phenotype bilateral rb
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history familial
Reference Munier - Lausanne
# Reported 1
Published -
Remarks Mutation also found in family

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2184insGGACC
cDNA change c.125insGGACC
Type Insertion
Exon 01_ex
RNA change -
Protein p.Pro43X
RBWiki -
expected consequence type unknown
DB-ID RB1_01462
originated_in unknown

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.2184insGGACC c.125insGGACC Insertion 01_ex - p.Pro43X - unknown RB1_01462 unknown

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