LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000377)
Patient ID AKU_DB_205
Disease AKU
Reference Usher et al. (2015), 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 #2
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
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT -
Allele code AKU_DB_205b
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
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 #1 AKU_00004 01i c.16-1G>A r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_205a substitution (-)RsaI - DNA SEQ intron
+/+ Parent #2 AKU_00097 13 c.1102A>G r.(?) p.(Met368Val) M368V missense Hexamer disruption de Bernabe et al. (1998) - AKU_DB_205b substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon