Variant #0000787049 (NC_000011.9:g.20625972T>C, SLC6A5(NM_004211.3):c.679+2T>C)

Individual ID 00374504
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.20625972T>C
DNA change (hg38) g.20604426T>C
Published as -
ISCN -
DB-ID SLC6A5_000041
Variant remarks -
Reference PubMed: Ganapathy 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC6A5 NM_004211.3 +?/. 3i c.679+2T>C r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375698 DNA SEQ-NG - TruSight One panel SLC6A5 1 Johan den Dunnen