Genomic variant #0000001714

Chromosome 14
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.103395992G>A
DNA change (hg38) g.102929655G>A
Published as -
ISCN -
DB-ID AMN_000015
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 +?/+? 07 c.761G>A - r.(761g>a) p.(Gly254Glu)