Variant #0000308484 (NC_000023.10:g.115573882C>T, SLC6A14(NM_007231.3):c.374C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.115573882C>T
DNA change (hg38) g.116442714C>T
Published as SLC6A14(NM_007231.4):c.374C>T (p.S125F)
ISCN -
DB-ID SLC6A14_000036
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC6A14 NM_007231.3 ?/. - c.374C>T r.(?) p.(Ser125Phe)