LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000639)
Patient ID AKU_TU_03
Disease AKU
Reference submitted, Turkey:Izmir
Remarks Homozygot
# Reported 1
Geographic origin Turkey
Patient/Affected_per_Family 2
Families Patients 1
Submitter Pelin Teke Kisa

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00204
Exon 13i14
DNA change c.1189-41_1248del
RNA change r.(?)
Protein p.(?)
Original description in13ex14 del
Links -
Variant remarks deletion
Predicted Mutation Effect** -
Reference Ascher et al. (2019)
Mutation HOT-SPOT -
Allele code AKU_TU_03a
Type deletion
Re-site -
Frequency -
Template DNA
Technique SEQ
Location intron/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_00204 13i14 c.1189-41_1248del r.(?) p.(?) in13ex14 del - deletion - Ascher et al. (2019) - AKU_TU_03b deletion - - DNA SEQ intron/exon
+/? Parent #1 AKU_00204 13i14 c.1189-41_1248del r.(?) p.(?) in13ex14 del - deletion - Ascher et al. (2019) - AKU_TU_03a deletion - - DNA SEQ intron/exon