LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002813)
Patient ID rs3092895
Phenotype -
Mut. origin unknown
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference dbSNP
# Reported 1
Published published
Remarks probably damaging / deleterious

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.150009A>G
cDNA change c.1707A>G   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 18_ex
RNA change -
Protein variant
RBWiki -
expected consequence type variant
DB-ID RB1_01050
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.150009A>G c.1707A>G substitution 18_ex - variant - variant RB1_01050 unknown

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