LOVD - Variant listings for HGD

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Patient data (#0000681)
Patient ID AKU_DB_382
Disease AKU
Reference Danda et al. (2020), India:Vellore
Remarks Compound heterozygous
# Reported 1
Geographic origin India
Patient/Affected_per_Family 1
Families Patients 1
Submitter Sumita Danda

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00156
Exon 10
DNA change c.752G>A
RNA change r.(?)
Protein p.(Gly251Asp)
Original description G251D
Links rs781011621
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Nemethova et al. (2016)
Mutation HOT-SPOT CCC triplet
Allele code AKU_DB_382b
Type substitution
Re-site (-)BsaJI, Cac8I
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_00156 10 c.752G>A r.(?) p.(Gly251Asp) G251D rs781011621 missense Protomer destabilisation Nemethova et al. (2016) CCC triplet AKU_DB_382b substitution (-)BsaJI, Cac8I - DNA SEQ exon
+/+? Parent #1 AKU_00252 13 c.1039C>T r.(?) p.(Arg347*) R347* rs781011621 nonsense - Danda et al. (2020) - AKU_DB_382a substitution ? - DNA SEQ exon