LOVD - Variant listings for RB1

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Patient data (#0002494)
Patient ID RB-70
Phenotype bilateral rb
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference -
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.39483delT
cDNA change c.302delT   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 03_ex
RNA change -
Protein -
RBWiki -
expected consequence type unknown
DB-ID RB1_01426
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.39483delT c.302delT Deletion 03_ex - - - unknown RB1_01426 -

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