LOVD - Variant listings for RB1

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Patient data (#0002530)
Patient ID 1275
Phenotype unilateral rb
Mut. origin -
Tissue blood
Template DNA
tumor-genotype -
family history -
Reference -
# Reported 1
Published unpublished
Remarks Tumor shows homozygous IVS22+1G>T (c.2325+1G>T), not in blood.
Blood has hetero c.31_33dupGCC ; tumor does not

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Probably no pathogenicity
g-position g.2090_2092dupGCC
cDNA change c.31_33dupGCC   (View in UCSC Genome Browser, Ensembl)
Type Duplication
Exon 01_ex
RNA change -
Protein p.Ala11dup
RBWiki Ala11dup
expected consequence type unknown
DB-ID RB1_01447
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.2090_2092dupGCC c.31_33dupGCC Duplication 01_ex - p.Ala11dup Ala11dup unknown RB1_01447 -

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