Genomic variant #0000260844

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.115226990del
DNA change (hg38) -
Published as AMPD1(NM_000036.2):c.481-4delG
ISCN -
DB-ID AMPD1_000004
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     
AMPD1 NM_000036.2 -?/. - c.481-4del likely benign r.spl? p.?