Genomic variant #0000441260

Individual ID 00209033
Chromosome 6
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.74354130C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID SLC17A5_000004 See all 2 reported entries
Variant remarks -
Reference PubMed: Lionel 2018
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC17A5 NM_012434.4 +/. - c.291G>A pathogenic, recessive r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210090 DNA SEQ-NG - WGS SLC17A5 2 Johan den Dunnen