Variant #0000251995 (NC_000011.9:g.20673878A>G, SLC6A5(NM_004211.3):c.2114A>G)

Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.20673878A>G
DNA change (hg38) g.20652332A>G
Published as SLC6A5(NM_004211.4):c.2114A>G (p.Y705C), SLC6A5(NM_004211.5):c.2114A>G (p.Y705C)
ISCN -
DB-ID SLC6A5_000021 See all 2 reported entries
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) 0.00246 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.2114A>G r.(?) p.(Tyr705Cys)