LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002553)
Patient ID 11050
Phenotype bilateral rb
Mut. origin unknown
Tissue nd
Template DNA
tumor-genotype unknown
family history -
Reference Munier - Lausanne
# Reported 1
Published -
Remarks Mutation not found in parents or brother

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2078dup
cDNA change c.19dup
Type insertion
Exon 01_ex
RNA change -
Protein -
RBWiki -
expected consequence type frameshift
DB-ID RB1_00449
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.2078dup c.19dup insertion 01_ex - - - frameshift RB1_00449 -

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