LOVD - Variant listings for AR

About this overview [Show]

Patient data (#0004865)
Disease cancer, liver
Phenotype additional genitalia normal
Remarks sex of rearing M
Reference Canada:Montreal
Geographic origin -
Ethnic origin -
Inheritance unknown
Consang. -
Age_exam -
Age_onset -
MR -
# Reported 1
Submitter Bruce Gottlieb

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon 1
DNA change c.170T>A   (View in UCSC Genome Browser, Ensembl)
Var_pub_as 1285T>A
RNA change r.(?)
Protein p.(Leu57Gln)
DB-ID AR_00411
Variant remarks -
Reference Yeh et al. Int J Cancer 120: 1610-1617, 2007
Template DNA
Technique SEQ
CpG -
Type Substitution
Location N-term
Frequency -
Re-site -
Genetic origin somatic
Protein/Activity -

1 entry in AR

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
CpG Descending
Ascending
Type Descending
Ascending
Location Descending
Ascending
Frequency Descending
Ascending
Re-site Descending
Ascending
Genetic origin Descending
Ascending
Protein/Activity Descending
Ascending
+/? Parent #1 1 c.170T>A 1285T>A r.(?) p.(Leu57Gln) AR_00411 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 DNA SEQ - Substitution N-term - - somatic -