LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003213)
Patient ID Supp_Tab_Mt-40
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.61733A>T
cDNA change c.865A>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 09_ex
RNA change -
Protein p.(Lys289*)
RBWiki -
expected consequence type nonsense
DB-ID RB1_01938
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.61733A>T c.865A>T Substitution 09_ex - p.(Lys289*) - nonsense RB1_01938 unknown

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