Variant #0000573146 (NC_000023.10:g.115573917G>T, SLC6A14(NM_007231.3):c.409G>T)

Chromosome X
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.115573917G>T
DNA change (hg38) g.116442749G>T
Published as SLC6A14(NM_007231.4):c.409G>T (p.(Ala137Ser))
ISCN -
DB-ID SLC6A14_000055
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) 0.00018 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC6A14 NM_007231.3 -?/. - c.409G>T r.(?) p.(Ala137Ser)