Genomic variant #0000558790

Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.67977987G>A
DNA change (hg38) g.67944084G>A
Published as LCAT(NM_000229.1):c.18C>T (p.S6=), SLC12A4(NM_005072.4):c.*756C>T
ISCN -
DB-ID LCAT_000163
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) Variant not found in online data sets
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LCAT NM_000229.1 ?/. - c.18C>T r.(?) p.(Ser6=)
SLC12A4 NM_005072.4 ?/. - c.*756C>T r.(=) p.(=)