Genomic variant #0000001694

Chromosome 14
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.103394761A>G
DNA change (hg38) g.102928424A>G
Published as -
ISCN -
DB-ID AMN_000003
Variant remarks ~18 MGA1 families of mostly Eastern Mediterranean origin
Reference PubMed: Tanner et al. 2003, PubMed: 2004, PubMed: Bouchlaka et al. 2004, PubMed: Broides et al. 2006, PubMed: Beech et al. 2011, PubMed: Namour et al. 2011, PubMed: De Filippo et al. 2013
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/177 CON
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     
AMN NM_030943.3 +/+ i03 c.208-2A>G - r.208_295del p.Leu70Alafs*100