Genomic variant #0000321103

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162473584A>T
DNA change (hg38) -
Published as UHMK1(NM_001184763.1):c.572A>T (p.(Lys191Ile), p.(Lys265Ile))
ISCN -
DB-ID UHMK1_000003
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     
UHMK1 NM_175866.4 ?/. - c.794A>T VUS r.(?) p.(Lys265Ile)