Genomic variant #0000324841

Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67970317del
DNA change (hg38) -
Published as PSMB10(NM_002801.3):c.128delC (p.(Ala43GlyfsTer45))
ISCN -
DB-ID PSMB10_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.*3490del VUS r.(?) p.(=)
CTRL NM_001907.2 ?/. - c.-4562del VUS r.(?) p.(=)
PSMB10 NM_002801.3 ?/. - c.128del VUS r.(?) p.(Ala43Glyfs*45)
SLC12A4 NM_005072.4 ?/. - c.*8426del VUS r.(?) p.(=)
PSKH1 NM_006742.2 ?/. - c.*8772del VUS r.(?) p.(=)