Genomic variant #0000331329

Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.158540074G>A
DNA change (hg38) g.158119042G>A
Published as SERAC1(NM_032861.3):c.1295C>T (p.(Thr432Met))
ISCN -
DB-ID SERAC1_000023
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_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SERAC1 NM_032861.3 ?/. - c.1295C>T r.(?) p.(Thr432Met)