LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003157)
Patient ID Supp_Tab_Mt-54
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.70392T>G
cDNA change c.1215+63T>G   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 12_in
RNA change splice_donor
Protein -
RBWiki -
expected consequence type splice
DB-ID RB1_01886
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.70392T>G c.1215+63T>G Substitution 12_in splice_donor - - splice RB1_01886 unknown

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