Genomic variant #0000001551

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.49459821delG
DNA change (hg38) g.49422388delG
Published as c.61delC
ISCN -
DB-ID AMT_000004
Variant remarks No C in position 61, nex C:s in positions c.62_63; 1 Oriental GCE family (P91; 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 (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.63delC - r.(63delc) p.(Leu22Cysfs*74)