LOVD - Variant listings for RB1

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Patient data (#0002657)
Patient ID Rb17
Phenotype bilateral rb
Mut. origin germline
Tissue blood
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.160793del22
cDNA change c.2170
Type Insertion/Deletion
Exon 21_ex
RNA change -
Protein -
RBWiki -
expected consequence type frameshift
DB-ID RB1_01503
originated_in germline

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.160793del22 c.2170 Insertion/Deletion 21_ex - - - frameshift RB1_01503 germline

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