LOVD - Variant listings for RB1

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Patient data (#0003110)
Patient ID rs3092886
Phenotype no cancer
Mut. origin somatic
Tissue nd
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.73724A>G
cDNA change c.1216-29A>G   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 12_in
RNA change -
Protein -
RBWiki -
expected consequence type unknown
DB-ID RB1_01839
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.73724A>G c.1216-29A>G Substitution 12_in - - - unknown RB1_01839 somatic

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