Genomic variant #0000258818

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.9232268T>C
DNA change (hg38) -
Published as A2M(NM_000014.4):c.2998A>G (p.I1000V)
ISCN -
DB-ID A2M_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.31965 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
A2M NM_000014.4 -/. - c.2998A>G benign r.(?) p.(Ile1000Val)