Genomic variant #0000322675

Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.9243907G>A
DNA change (hg38) -
Published as A2M(NM_000014.4):c.2359C>T (p.(Arg787Ter))
ISCN -
DB-ID A2M_000002
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
A2M NM_000014.4 ?/. - c.2359C>T VUS r.(?) p.(Arg787*)