LOVD - Variant listings for HGD

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Patient data (#0000642)
Patient ID AKU_TU_06
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 #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00239
Exon 04
DNA change c.189G>A
RNA change r.(?)
Protein p.(Arg63Arg)
Original description R63R
Links -
Variant remarks silent?/splicing?
Predicted Mutation Effect** -
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_TU_06a
Type substitution
Re-site ?
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
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_00239 04 c.189G>A r.(?) p.(Arg63Arg) R63R - silent?/splicing? - submitted - AKU_TU_06b substitution ? - DNA SEQ exon
+/+? Parent #1 AKU_00239 04 c.189G>A r.(?) p.(Arg63Arg) R63R - silent?/splicing? - submitted - AKU_TU_06a substitution ? - DNA SEQ exon