LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002523)
Patient ID 10
Phenotype other cancer
Mut. origin -
Tissue blood
Template DNA
tumor-genotype -
family history -
Reference -
# Reported 1
Published unpublished
Remarks Breast Cancer

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.5447A>G
cDNA change c.161A>G   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 02_ex
RNA change -
Protein p.Glu54Gly
RBWiki Glu54Gly
expected consequence type unknown
DB-ID RB1_01446
originated_in -

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.5447A>G c.161A>G Substitution 02_ex - p.Glu54Gly Glu54Gly unknown RB1_01446 -

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