Genomic variant #0000545568

Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6943128_6943129insCAA
DNA change (hg38) -
Published as OR2D3(NM_001004684.1):c.895_896insCAA (p.(Pro299_Met300insThr))
ISCN -
DB-ID OR2D3_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
OR2D3 NM_001004684.1 -?/. - c.896_897insCAA likely benign r.(?) p.(Pro299_Met300insLys)
ZNF215 NM_013250.2 -?/. - c.-5114_-5113insCAA likely benign r.(?) p.(=)