LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002601)
Patient ID rs41287453
Phenotype -
Mut. origin -
Tissue tumor
Template DNA
tumor-genotype -
family history -
Reference dbSNP
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.64441T>A
cDNA change c.1049+2T>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 10_in
RNA change altered splicing
Protein -
RBWiki -
expected consequence type unknown
DB-ID RB1_01477
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.64441T>A c.1049+2T>A Substitution 10_in altered splicing - - unknown RB1_01477 somatic

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