Genomic variant #0000222314

Individual ID 00029771
Chromosome 5
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.149901205G>A
DNA change (hg38) g.150521643G>A
Published as rs148227466
ISCN -
DB-ID NDST1_000001
Variant remarks -
Reference PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016
ClinVar ID -
dbSNP ID rs148227466
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NDST1 NM_001543.4 ?/. 2 c.389G>A - r.(?) p.(Arg130His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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