Variant #0000525763 (NC_000005.9:g.41862819G>A, OXCT1(NM_000436.3):c.112C>T)

Chromosome 5
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.41862819G>A
DNA change (hg38) g.41862717G>A
Published as OXCT1(NM_000436.3):c.112C>T (p.(Arg38Cys))
ISCN -
DB-ID OXCT1_000008
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) 0.00495 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     
OXCT1 NM_000436.3 -?/. - c.112C>T r.(?) p.(Arg38Cys)