Genomic variant #0000247643

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42912453A>G
DNA change (hg38) -
Published as LIPE(NM_005357.3):c.1441T>C (p.F481L)
ISCN -
DB-ID LIPE_000002
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     
LIPE NM_005357.2 ?/. - c.1441T>C VUS r.(?) p.(Phe481Leu)