Genomic variant #0000298106

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.158541512_158541513del
DNA change (hg38) -
Published as SERAC1(NM_032861.3):c.1112_1113delTG (p.V371Afs*22)
ISCN -
DB-ID SERAC1_000024
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     
SERAC1 NM_032861.3 +/. - c.1112_1113del pathogenic r.(?) p.(Val371Alafs*22)