LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0003086)
Patient ID 1KG_13_49050882
Phenotype other cancer
Mut. origin unknown
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference http://www.1000genomes.org/
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.173752G>A
cDNA change c.2566G>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 25_ex
RNA change -
Protein p.Asp856Asn
RBWiki -
expected consequence type unknown
DB-ID RB1_01815
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.173752G>A c.2566G>A Substitution 25_ex - p.Asp856Asn - unknown RB1_01815 somatic

Please help to improve the quality of the data and report any error that you may find!