LOVD - Variant listings for HGD

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Patient data (#0000653)
Patient ID AKU_TU_15
Disease AKU
Reference submitted, Turkey:Izmir
Remarks Homozygot
# Reported 1
Geographic origin Turkey
Patient/Affected_per_Family 1
Families Patients 1
Submitter Pelin Teke Kisa

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00241
Exon 13i
DNA change c.1188+1G>A
RNA change r.(?)
Protein ?
Original description ivs13+1G>A
Links -
Variant remarks aberrant splicing (DS)/exon skipping/frameshift?
Predicted Mutation Effect** -
Reference submitted
Mutation HOT-SPOT ?
Allele code AKU_TU_15b
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_00241 13i c.1188+1G>A r.(?) ? ivs13+1G>A - aberrant splicing (DS)/exon skipping/frameshift? - submitted ? AKU_TU_15b substitution ? - DNA SEQ intron
+/+? Parent #1 AKU_00241 13i c.1188+1G>A r.(?) ? ivs13+1G>A - aberrant splicing (DS)/exon skipping/frameshift? - submitted ? AKU_TU_15a substitution ? - DNA SEQ intron