LOVD - Variant listings for BHLHB9

About this overview [Show]

Patient data (#0000121)
Disease MRX
Phenotype additional -
Remarks -
Reference Raymond:Cambridge
Geographic origin ?
Ethnic origin ?
Inheritance unknown
Consang. -
Age_exam -
Age_onset -
MR -
# Reported 1
Submitter Lucy Raymond

Variant data
Allele Parent #1
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
Exon -
DNA change c.1212T>C
Var_pub_as p.H404H
RNA change r.(?)
Protein p.=
DB-ID BHLHB9_00001
Variant remarks found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)
Frequency -
Reference Tarpey 2009
Template DNA
do not use SEQ
Re-site -
Genetic origin -

1 entry in BHLHB9

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
Frequency Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
do not use Descending
Ascending
Re-site Descending
Ascending
Genetic origin Descending
Ascending
-?/? Parent #1 - c.1212T>C p.H404H r.(?) p.= BHLHB9_00001 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Tarpey 2009 DNA SEQ - -