Genomic variant #0000001711

Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.103396457_103396471del
DNA change (hg38) g.102930120_102930134del
Published as c.1006+34_48del15bp > Exon 9 skipping
ISCN -
DB-ID AMN_000012
Variant remarks 5 MGA1 families (2 French, 1 Spanish, 1 Hispanic and 1 Sudan)
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 +/+ i09 c.1006+34_1007-31del - r.(844_1006del) p.(Pro282Alafs*78)