LOVD - Variant listings for HGD

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Patient data (#0000682)
Patient ID AKU_DB_383
Disease AKU
Reference Danda et al. (2020), India:Vellore
Remarks Homozygot
# Reported 1
Geographic origin India
Patient/Affected_per_Family 2
Families Patients 1
Submitter Sumita Danda

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00253
Exon 10i
DNA change c.775-16T>A
RNA change r.(?)
Protein p.(?)
Original description ivs10-16T>A
Links rs995182027
Variant remarks aberrant splicing, creates novel (AS)/frameshift?
Predicted Mutation Effect** -
Reference Danda et al. (2020)
Mutation HOT-SPOT -
Allele code AKU_DB_383a
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 #1 AKU_00253 10i c.775-16T>A r.(?) p.(?) ivs10-16T>A rs995182027 aberrant splicing, creates novel (AS)/frameshift? - Danda et al. (2020) - AKU_DB_383a substitution - - DNA SEQ intron
+/+? Parent #2 AKU_00253 10i c.775-16T>A r.(?) p.(?) ivs10-16T>A rs995182027 aberrant splicing, creates novel (AS)/frameshift? - Danda et al. (2020) - AKU_DB_383b substitution - - DNA SEQ intron