Genomic variant #0000558762

Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67973953G>A
DNA change (hg38) -
Published as LCAT(NM_000229.1):c.1177C>T (p.=)
ISCN -
DB-ID LCAT_000137
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) 0.08595 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
LCAT NM_000229.1 -/. - c.1177C>T benign r.(?) p.(=)
PSMB10 NM_002801.3 -/. - c.-3301C>T benign r.(?) p.(=)
SLC12A4 NM_005072.4 -/. - c.*4790C>T benign r.(=) p.(=)