LOVD - Variant listings for HGD

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Patient data (#0000545)
Patient ID AKU_DB_288
Disease AKU
Reference submitted, Russia:Moscow
Remarks Compound heterozygous
# Reported 1
Geographic origin Russia
Patient/Affected_per_Family 1
Families Patients 1
Submitter Alexander Kuzin

Variant data
Allele Parent #1
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_288b
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 #1 AKU_00004 01i c.16-1G>A r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A rs397515347 aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_288a substitution (-)RsaI - DNA SEQ intron
+/? Parent #1 AKU_00156 10 c.752G>A r.(?) p.(Gly251Asp) G251D rs781011621 missense Protomer destabilisation Nemethova et al. (2016) CCC triplet AKU_DB_288b substitution (-)BsaJI, Cac8I - DNA SEQ exon