Genomic variant #0000278763

Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.67974074G>A
DNA change (hg38) g.67940171G>A
Published as LCAT(NM_000229.1):c.1056C>T (p.D352=)
ISCN -
DB-ID LCAT_000103
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_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LCAT NM_000229.1 -/. - c.1056C>T r.(?) p.(Asp352=)
PSMB10 NM_002801.3 -/. - c.-3422C>T r.(?) p.(=)
SLC12A4 NM_005072.4 -/. - c.*4669C>T r.(=) p.(=)