Variant #0000299555 (NC_000005.9:g.1411412T>C, SLC6A3(NM_001044.4):c.1215A>G)

Chromosome 5
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.1411412T>C
DNA change (hg38) g.1411297T>C
Published as SLC6A3(NM_001044.4):c.1215A>G (p.S405=), SLC6A3(NM_001044.5):c.1215A>G (p.S405=)
ISCN -
DB-ID SLC6A3_000024 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.23018 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC6A3 NM_001044.4 -/. - c.1215A>G r.(?) p.(Ser405=)