Genomic variant #0000163865

Individual ID 00100921
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.158537284_158537286del
DNA change (hg38) g.158116252_158116254del
Published as 1435_1437delCTT
ISCN -
DB-ID SERAC1_000007
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 +/. 14 c.1435_1437del r.(?) p.(Leu479del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101343 DNA SEQ - - SERAC1 1 Johan den Dunnen