Variant #0000001530 (NC_000004.11:g.178363496C>A, AGA(NM_000027.3):c.34G>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.178363496C>A
DNA change (hg38) g.177442342C>A
Published as c.34G>T
ISCN -
DB-ID AGA_000012 See all 2 reported entries
Variant remarks 1 Italian AGU patient (het); Double mutation c.34G>T + c.1000G>T in one allele, which one is causative is unclear
Reference PubMed: Saarela et al. 2001
ClinVar ID -
dbSNP ID rs74626221
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01434 View details
Owner Anne Polvi
Database submission license No license selected
Created by Anne Polvi
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 +/+ 1 c.34G>T r.(34g>u) p.(Val12Leu)