Genomic variant #0000502575

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.115229523C>T
DNA change (hg38) -
Published as AMPD1(NM_000036.2):c.323G>A (p.R108H)
ISCN -
DB-ID AMPD1_000007
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00292 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AMPD1 NM_000036.2 -/. - c.323G>A benign r.(?) p.(Arg108His)