Genomic variant #0000001553

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.49459656C>T
DNA change (hg38) g.49422223C>T
Published as -
ISCN -
DB-ID AMT_000006 See all 5 reported entries
Variant remarks 1 GCE family (com-het)
Reference PubMed: Nanao et al. 1994
ClinVar ID -
dbSNP ID rs121964982
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.139G>A - r.(139g>a) p.(Gly47Arg)