Genomic variant #0000252538

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2876426A>T
DNA change (hg38) -
Published as ARSE(NM_000047.2):c.74T>A (p.L25*)
ISCN -
DB-ID ARSE_000073
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     
ARSE NM_000047.2 +/. - c.74T>A pathogenic r.(?) p.(Leu25*)