LOVD - Variant listings for HGD

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Patient data (#0000147)
Patient ID AKU_SRS_13
Disease AKU
Reference Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Slovakia
Patient/Affected_per_Family 2
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00004
Exon 01i
DNA change c.16-1G>A
RNA change r.(spl?)
Protein p.(Tyr6_Gln29del)
Original description ivs1-1G>A
Links rs397515347
Variant remarks aberrant splicing (AS)/exon skipping/in frame deletion?
Predicted Mutation Effect** -
Reference Muller et al. (1999)
Mutation HOT-SPOT -
Allele code AKU_SRS_13b
Type substitution
Re-site (-)RsaI
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_00004 01i c.16-1G>A r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A rs397515347 aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_SRS_13b substitution (-)RsaI - DNA SEQ intron
+/+ Parent #1 AKU_00083 12 c.899T>G r.(?) p.(Val300Gly) V300G - missense Protomer destabilisation Fernandez Canon et al. (1996) - AKU_SRS_13a substitution - - DNA SEQ exon