Genomic variant #0000502576

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.115231254G>A
DNA change (hg38) -
Published as AMPD1(NM_000036.2):c.242C>T (p.(Pro81Leu))
ISCN -
DB-ID AMPD1_000001 See all 5 reported entries
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) 0.09588 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.242C>T benign r.(?) p.(Pro81Leu)