Variant #0000558791 (NC_000016.9:g.67978009G>A, LCAT(NM_000229.1):c.-5C>T)

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.67978009G>A
DNA change (hg38) g.67944106G>A
Published as LCAT(NM_000229.1):c.-5C>T, SLC12A4(NM_005072.4):c.*734C>T
ISCN -
DB-ID LCAT_000164
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) 1.0E-5 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LCAT NM_000229.1 -?/. - c.-5C>T r.(?) p.(=)
SLC12A4 NM_005072.4 -?/. - c.*734C>T r.(=) p.(=)