Genomic variant #0000001560

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.49459006C>G
DNA change (hg38) g.49421573C>G
Published as IVS2-1G>C
ISCN -
DB-ID AMT_000013 See all 3 reported entries
Variant remarks 1 GCE family (com-het)
Reference PubMed: Pardal-Fernandez et al. 2009
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 +/+ 2i c.259-1G>C - r.spl? p.?