Genomic variant #0000001552

Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.49459670T>C
DNA change (hg38) g.49422237T>C
Published as -
ISCN -
DB-ID AMT_000005
Variant remarks 1 Israeli-Arab GCE family (hom)
Reference PubMed: Kure et al. 1998, PubMed: Kure et al. 2006
ClinVar ID -
dbSNP ID rs121964983
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.125A>G - r.(125a>g) p.(His42Arg)