Variant #0000298351 (NC_000011.9:g.20622975G>A, SLC6A5(NM_004211.3):c.304G>A)

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.20622975G>A
DNA change (hg38) g.20601429G>A
Published as SLC6A5(NM_004211.5):c.304G>A (p.G102S)
ISCN -
DB-ID SLC6A5_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.36884 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC6A5 NM_004211.3 -/. - c.304G>A r.(?) p.(Gly102Ser)