LOVD - Variant listings for RB1

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Patient data (#0002656)
Patient ID Rb16
Phenotype unilateral rb
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history isolated
Reference Ata-ur-Rasheed et al. (2002) Ophthalmic Genet.(2):121-8.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.156720ins19
cDNA change c.1988ins19
Type Insertion/Deletion
Exon 20_ex
RNA change -
Protein -
RBWiki -
expected consequence type frameshift
DB-ID RB1_01502
originated_in somatic

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.156720ins19 c.1988ins19 Insertion/Deletion 20_ex - - - frameshift RB1_01502 somatic

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