Variant #0000308485 (NC_000023.10:g.115574014T>C, SLC6A14(NM_007231.3):c.506T>C)

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.115574014T>C
DNA change (hg38) g.116442846T>C
Published as SLC6A14(NM_007231.4):c.506T>C (p.I169T)
ISCN -
DB-ID SLC6A14_000037
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC6A14 NM_007231.3 ?/. - c.506T>C r.(?) p.(Ile169Thr)