Genomic variant #0000001710

Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.103395267dup
DNA change (hg38) g.102928930dupT
Published as c.468_469insT
ISCN -
DB-ID AMN_000011
Variant remarks 1 French MGA1 family (com-het)
Reference PubMed: Tanner et al. 2012
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
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 +/+ 05 c.468dupT - r.(468dupu) p.(Gly157Trpfs*3)