Genomic variant #0000222313

Individual ID 00029771
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.89220527C>T
DNA change (hg38) -
Published as rs139520739
ISCN -
DB-ID ACSF3_000001
Variant remarks -
Reference PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016
ClinVar ID -
dbSNP ID rs139520739
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ACSF3 NM_174917.3 ?/. 11 c.1643C>T - r.(?) p.(Ser548Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029814 DNA SEQ;SEQ-NG - - STAG3 7 Polona Le Quesne Stabej