Genomic variant #0000324842

Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67995561C>T
DNA change (hg38) -
Published as SLC12A4(NM_001145961.1):c.259G>A (p.(Val87Ile), p.(Val89Ile), p.(Val81Ile), p.(Val56Ile))
ISCN -
DB-ID SLC12A4_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     
LCAT NM_000229.1 ?/. - c.-17557G>A VUS r.(?) p.(=)
SLC12A4 NM_005072.4 ?/. - c.259G>A VUS r.(?) p.(Val87Ile)