Genomic variant #0000001549

Chromosome 3
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.49459825delG
DNA change (hg38) g.49422392delG
Published as 183delC, c.54delC
ISCN -
DB-ID AMT_000002
Variant remarks 1 Japanese GCE family with 3 patients (P25; com-het)
Reference PubMed: Kure et al.1998, PubMed: Kure et al. 2006
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AMT NM_000481.3 +/+ 1 c.59delC - r.(59delc) p.(Pro20Argfs*76)