Variant #0000691173 (NC_000011.9:g.6943113A>G, ZNF215(NM_013250.2):c.-5129A>G)

Chromosome 11
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.6943113A>G
DNA change (hg38) -
Published as OR2D3(NM_001004684.1):c.881A>G (p.Y294C)
ISCN -
DB-ID OR2D3_000003
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) 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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OR2D3 NM_001004684.1 ?/. - c.881A>G r.(?) p.(Tyr294Cys)
ZNF215 NM_013250.2 ?/. - c.-5129A>G r.(?) p.(=)