Genomic variant #0000001712

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.103395424G>A
DNA change (hg38) g.102929087G>A
Published as new splice site leading to c.513_514ins32bp; p.Thr172fs
ISCN -
DB-ID AMN_000013
Variant remarks 1 Turkish MGA1 family (hom)
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 +/+ i05 c.514-34G>A - r.(513_514ins32bp) p.Thr172fs