Genomic variant #0000001716

Chromosome 14
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.103396391_103396394dup
DNA change (hg38) g.102930054_102930057dupCCCG
Published as c.977_978insCCCG
ISCN -
DB-ID AMN_000017
Variant remarks 1 Czech 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 +/+ 09 c.974_977dupCCCG - r.(974_977dupcccg) p.(Ala327Profs*184)