LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000544)
Patient ID AKU_DB_287
Disease AKU
Reference Soltysova et al. (2021), Russia:Moscow
Remarks Compound heterozygous
# Reported 1
Geographic origin Russia
Patient/Affected_per_Family 3
Families Patients 1
Submitter Alexander Kuzin

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00222
Exon 06
DNA change c.372C>T
RNA change r.(?)
Protein p.(Asp124Asp)
Original description D124D
Links rs140977117
Variant remarks silent
Predicted Mutation Effect** -
Reference Soltysova et al. (2021)
Mutation HOT-SPOT -
Allele code AKU_DB_287d
Type substitution
Re-site ?
Frequency -
Template DNA
Technique SEQ
Location exon

5 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_287b substitution (-)RsaI - DNA SEQ intron
+/+ 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_287a substitution (-)RsaI - DNA SEQ intron
+/? Parent #1 AKU_00222 06 c.372C>T r.(?) p.(Asp124Asp) D124D rs140977117 silent - Soltysova et al. (2021) - AKU_DB_287d substitution ? - DNA SEQ exon
+/? Parent #2 AKU_00221 10 c.753C>T r.(?) p.(Gly251Gly) G251G - silent/aberrant splicing (creating novel DS) - Soltysova et al. (2021), Bychkov et al. (2021) - AKU_DB_287c substitution ? - DNA SEQ exon
+/? Parent #2 AKU_00223 14 c.1191A>C r.(?) p.(Ala397Ala) A397A rs137923025 silent - Soltysova et al. (2021) - AKU_DB_287e substitution ? - DNA SEQ exon