Genomic variant #0000308208

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67984892G>A
DNA change (hg38) -
Published as SLC12A4(NM_005072.4):c.1369C>T (p.L457=)
ISCN -
DB-ID SLC12A4_000001
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.-6888C>T likely benign r.(?) p.(=)
SLC12A4 NM_005072.4 -?/. - c.1369C>T likely benign r.(?) p.(=)