LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0000318)
Patient ID family 229
Phenotype rb
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype not reported
family history familial lp
Reference Sakai et al., 1991
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.1862G>A
cDNA change c.-198G>A   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 00_up
RNA change -
Protein SP1-recognition
RBWiki -
expected consequence type promoter
DB-ID RB1_00018
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.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 -

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