Variant #0000274517 (NC_000023.10:g.115592950G>C, SLC6A14(NM_007231.3):c.*2829G>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.115592950G>C
DNA change (hg38) g.116461783G>C
Published as CT83(NM_001017978.4):c.300C>G (p.S100R)
ISCN -
DB-ID CXorf61_000004
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CXorf61 NM_001017978.2 -?/. - c.300C>G r.(?) p.(Ser100Arg)
SLC6A14 NM_007231.3 -?/. - c.*2829G>C r.(=) p.(=)