Genomic variant #0000278780

Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67974309G>A
DNA change (hg38) -
Published as LCAT(NM_000229.1):c.821C>T (p.P274L)
ISCN -
DB-ID LCAT_000109
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     
LCAT NM_000229.1 +?/. - c.821C>T likely pathogenic r.(?) p.(Pro274Leu)
PSMB10 NM_002801.3 +?/. - c.-3657C>T likely pathogenic r.(?) p.(=)
SLC12A4 NM_005072.4 +?/. - c.*4434C>T likely pathogenic r.(=) p.(=)