Genomic variant #0000001556

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.49459647delC
DNA change (hg38) g.49422214delC
Published as c.147delG
ISCN -
DB-ID AMT_000009
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 (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 +/+ 2 c.148delG - r.(148delg) p.(Val50Trpfs*46)