Variant #0000001572 (NC_000003.11:g.49455314_49455316del, AMT(NM_000481.3):c.970_972del)

Chromosome 3
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.49455314_49455316del
DNA change (hg38) g.49417881_49417883del
Published as c.970_972delATG: 320Met Deletion
ISCN -
DB-ID AMT_000025
Variant remarks 1 Oriental GCE family (P115; com-het)
Reference PubMed: Kure et al. 2006
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     
AMT NM_000481.3 +/+ 8 c.970_972del r.(?) p.(Met324del)