Variant #0000001528 (NC_000004.11:g.178360822G>A, AGA(NM_000027.3):c.302C>T)

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178360822G>A
DNA change (hg38) g.177439668G>A
Published as -
ISCN -
DB-ID AGA_000010 See all 3 reported entries
Variant remarks 1 Italian (hom) and 1 English (com-het) AGU patient
Reference PubMed: Ikonen et al. 1991, PubMed: Park et al. 1993
ClinVar ID -
dbSNP ID rs121964908
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Anne Polvi
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 +/+ 3 c.302C>T r.302c>u p.Ala101Val