LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002674)
Patient ID 891
Phenotype -
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM891
# Reported 1
Published -
Remarks Observed 9 times in 9 samples

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.64348C>T
cDNA change c.958C>T
Type substitution
Exon 10_ex
RNA change -
Protein p.Arg320X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00072
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.64348C>T c.958C>T substitution 10_ex - p.Arg320X - nonsense RB1_00072 somatic

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