LOVD - Variant listings for RB1

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Patient data (#0002532)
Patient ID 687
Phenotype unilateral rb
Mut. origin -
Tissue blood
Template DNA
tumor-genotype -
family history -
Reference -
# Reported 1
Published unpublished
Remarks No tumor avlb. Blood carries het 7 8_80delGCC.
Unaffected mother also carries this mut

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Probably no pathogenicity
g-position g.2137__2139del
cDNA change c.78_80del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 01_ex
RNA change -
Protein p.Pro29del
RBWiki Pro29del
expected consequence type unknown
DB-ID RB1_01448
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.2137__2139del c.78_80del Deletion 01_ex - p.Pro29del Pro29del unknown RB1_01448 -

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