Variant #0000001536 (NC_000004.11:g.178359903C>T, AGA(NM_000027.3):c.503G>A)

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.178359903C>T
DNA change (hg38) g.177438749C>T
Published as -
ISCN -
DB-ID AGA_000018 See all 2 reported entries
Variant remarks 1 British AGU patient (com-het)
Reference PubMed: Saarela et al. 2001
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 2.0E-5 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 +/+ 4 c.503G>A r.(503g>a) p.(Trp168*)