LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000558)
Patient ID AKU_DB_301
Disease AKU
Reference submitted, Russia:Moscow
Remarks Homozygot
# Reported 1
Geographic origin Russia
Patient/Affected_per_Family 1
Families Patients 1
Submitter Alexander Kuzin

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00025
Exon 05i
DNA change c.342+1G>A
RNA change r.(spl?)
Protein p.(Leu95_Ser114del)
Original description ivs5+1G>A
Links rs397515518
Variant remarks aberrant splicing (DS)/exon skipping/in frame deletion?
Predicted Mutation Effect** -
Reference Muller et al. (1999)
Mutation HOT-SPOT c.342+1G
Allele code AKU_DB_301b
Type substitution
Re-site -
Frequency -
Template DNA
Technique SEQ
Location intron

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_00025 05i c.342+1G>A r.(spl?) p.(Leu95_Ser114del) ivs5+1G>A rs397515518 aberrant splicing (DS)/exon skipping/in frame deletion? - Muller et al. (1999) c.342+1G AKU_DB_301b substitution - - DNA SEQ intron
+/+ Parent #1 AKU_00025 05i c.342+1G>A r.(spl?) p.(Leu95_Ser114del) ivs5+1G>A rs397515518 aberrant splicing (DS)/exon skipping/in frame deletion? - Muller et al. (1999) c.342+1G AKU_DB_301a substitution - - DNA SEQ intron