Variant #0000302285 (NC_000011.9:g.20658786G>T, SLC6A5(NM_004211.3):c.1806G>T)

Chromosome 11
Allele Unknown
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.20658786G>T
DNA change (hg38) g.20637240G>T
Published as SLC6A5(NM_004211.5):c.1806G>T (p.K602N)
ISCN -
DB-ID SLC6A5_000017
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) 2.0E-5 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC6A5 NM_004211.3 +?/. - c.1806G>T r.(?) p.(Lys602Asn)