Variant #0000624391 (NC_000023.10:g.115572204A>C, SLC6A14(NM_007231.3):c.285A>C)

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.115572204A>C
DNA change (hg38) g.116441036A>C
Published as SLC6A14(NM_007231.4):c.285A>C (p.S95=)
ISCN -
DB-ID SLC6A14_000059
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) 2.0E-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.285A>C r.(?) p.(Ser95=)