Variant #0000001547 (NC_000004.11:g.178360019T>C, AGA(NM_000027.3):c.395-8A>G)

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.178360019T>C
DNA change (hg38) g.177438865T>C
Published as -
ISCN -
DB-ID AGA_000029
Variant remarks 1 Japanese AGU patient
Reference PubMed: Yoshida et al. 1991, PubMed: Saarela et al. 2001
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 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 +/+ 3i c.395-8A>G r.394_395insucuccag p.(Ala132ValfsTer15)