LOVD - Variant listings for AR

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Patient data (#0004237)
Disease androgen insensitivity syndrome, partial (PAIS)
Phenotype additional genitalia ambiguous
Remarks sex of rearing F; affected sister and mother, 2 aunts heterozygote carriers
Reference Canada:Montreal
Geographic origin -
Ethnic origin -
Inheritance familial
Consang. -
Age_exam -
Age_onset -
MR -
# Reported 3
Submitter Bruce Gottlieb

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon 7
DNA change c.2567G>A   (View in UCSC Genome Browser, Ensembl)
Var_pub_as 3682G>A
RNA change r.(?)
Protein p.(Arg856His)
DB-ID AR_00010
Variant remarks -
Reference Audi 2010
Template DNA
Technique SEQ
CpG +
Type Substitution
Location LBD
Frequency -
Re-site -
Genetic origin germline (inherited)
Protein/Activity -

3 entries 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
?/? Unknown 1 c.172CAG[17] Gln18 r.(?) p.(Gln76_Gln80del) AR_00004e - Audi 2010 DNA SEQ - deletion - - - germline (inherited) -
-?/? Unknown 1 c.1351GGY[17] Gly17 r.(?) p.(Gly468_Gly473del) AR_00005d - Audi 2010 DNA SEQ - deletion - - - germline (inherited) -
+/? Parent #1 7 c.2567G>A 3682G>A r.(?) p.(Arg856His) AR_00010 - Audi 2010 DNA SEQ + Substitution LBD - - germline (inherited) -