LOVD - Variant listings for RB1

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Patient data (#0002208)
Patient ID F3148
Phenotype rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype -
family history familial
Reference Taylor et al. (2007) Hum Mutat 28: 284
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.2104_2138dup
cDNA change c.45_78dup   (View in UCSC Genome Browser, Ensembl)
Type insertion
Exon 01_ex
RNA change -
Protein p.Pro27Cysfs*15
RBWiki -
expected consequence type frameshift
DB-ID RB1_01324
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.2104_2138dup c.45_78dup insertion 01_ex - p.Pro27Cysfs*15 - frameshift RB1_01324 unknown

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