Genomic variant #0000527779

Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.158571611A>T
DNA change (hg38) -
Published as SERAC1(NM_032861.3):c.139T>A (p.F47I)
ISCN -
DB-ID SERAC1_000043
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.02101 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SERAC1 NM_032861.3 ?/. - c.139T>A VUS r.(?) p.(Phe47Ile)