Genomic variant #0000001561

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.49457681T>A
DNA change (hg38) g.49420248T>A
Published as -
ISCN -
DB-ID AMT_000014 See all 3 reported entries
Variant remarks 2 Caucasian/Native American sibs (com-het) with GCE
Reference PubMed: Toone et al. 2001
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 +/+ 4 c.434A>T - r.(434a>u) p.(Asn145Ile)