LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003166)
Patient ID Supp_Tab_Mt-65
Phenotype -
Mut. origin -
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference Price et al., 2013
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.76938_76953del16
cDNA change c.1421+18_1421+33del16   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 15_in
RNA change splice_donor
Protein -
RBWiki -
expected consequence type splice
DB-ID RB1_01894
originated_in unknown

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.76938_76953del16 c.1421+18_1421+33del16 Deletion 15_in splice_donor - - splice RB1_01894 unknown

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