Genomic variant #0000163859

Individual ID 00100918
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.158540201_158540204del
DNA change (hg38) g.158119169_158119172del
Published as 1167_1170delTCAG
ISCN -
DB-ID SERAC1_000002
Variant remarks -
Reference PubMed: Wortmann 2012, Journal: Wortmann 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SERAC1 NM_032861.3 +/. 12 c.1167_1170del r.1167_1308del p.Ser389Argfs*4



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101340 DNA;RNA RT-PCR;SEQ - - SERAC1 1 Johan den Dunnen