Variant #0000001537 (NC_000004.11:g.178357451C>T, AGA(NM_000027.3):c.677G>A)

Chromosome 4
Allele Both (homozygous)
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.178357451C>T
DNA change (hg38) g.177436297C>T
Published as G677→A and exon 6 skipping
ISCN -
DB-ID AGA_000019
Variant remarks 2 Canadian AGU patients (hom)
Reference PubMed: Coulter-Mackie et al. 1999
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 1.0E-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 +/+ 6 c.677G>A r.[677g>a, del751_826] p.[Gly226Asp, p.Ala251*]