LOVD - Variant listings for HGD

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Patient data (#0000438)
Patient ID AKU_DB_242
Disease AKU
Reference submitted, United Kingdom (Great Britain):Liverpool
Remarks Homozygot
# Reported 1
Geographic origin Sri Lanka
Patient/Affected_per_Family 1
Families Patients 1
Submitter Jeannette Usher

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00202
Exon 04
DNA change c.180G>A
RNA change r.(?)
Protein p.(Trp60*)
Original description W60*
Variant remarks nonsense
Predicted Mutation Effect** -
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_DB_242b
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
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_00202 04 c.180G>A r.(?) p.(Trp60*) W60* nonsense - submitted - AKU_DB_242b substitution ? - DNA SEQ exon
+/+ Parent #1 AKU_00202 04 c.180G>A r.(?) p.(Trp60*) W60* nonsense - submitted - AKU_DB_242a substitution ? - DNA SEQ exon