LOVD - Variant listings for RB1

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Patient data (#0000640)
Patient ID Fam369
Phenotype bilateral rb
Mut. origin germline
Tissue nd
Template DNA
tumor-genotype -
family history isolated
Reference Richter et al. (2003) Am J Hum Genet 72(2): 253-69.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.173768insT
cDNA change c.2582_2582insT   (View in UCSC Genome Browser, Ensembl)
Type insertion
Exon 25_ex
RNA change -
Protein p.Arg861SerfsX3
RBWiki -
expected consequence type -
DB-ID RB1_00860
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.173768insT c.2582_2582insT insertion 25_ex - p.Arg861SerfsX3 - - RB1_00860 -

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