LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000469)
Patient ID AKU_DB_267
Disease AKU
Reference submitted, United Kingdom (Great Britain):Liverpool
Remarks Compound heterozygous
# Reported 1
Geographic origin United Kingdom
Patient/Affected_per_Family 1
Families Patients 1
Submitter Jeannette Usher

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00097
Exon 13
DNA change c.1102A>G
RNA change r.(?)
Protein p.(Met368Val)
Original description M368V
Links rs120074173
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT -
Allele code AKU_DB_267a
Type substitution
Re-site (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI
Frequency -
Template DNA
Technique SEQ
Location exon

2 entries in HGD

Path.
Allele Descending
Ascending
DB-ID Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Original description Descending
Ascending
Links Descending
Ascending
Variant remarks Descending
Ascending
Predicted Mutation Effect** Descending
Ascending
Reference Descending
Ascending
Mutation HOT-SPOT Descending
Ascending
Allele code Descending
Ascending
Type Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Location Descending
Ascending
+/+ Parent #2 AKU_00044 07i c.469+2T>C r.(spl?) p.(Arg145Serfs*22) ivs7+2T>C rs745333667 aberrant splicing (DS)/exon skipping/frameshift - Phornphutkul et al. (2002) - AKU_DB_267b substitution - - DNA SEQ intron
+/+ Parent #1 AKU_00097 13 c.1102A>G r.(?) p.(Met368Val) M368V rs120074173 missense Hexamer disruption de Bernabe et al. (1998) - AKU_DB_267a substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon