Variant #0000543827 (NC_000011.9:g.32697110C>T, CCDC73(NM_001008391.2):c.566-20591G>A)

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.32697110C>T
DNA change (hg38) g.32675564C>T
Published as CCDC73(NM_001008391.2):c.645+1G>A (p.?)
ISCN -
DB-ID EIF3M_000002
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CCDC73 NM_001008391.2 ?/. - c.566-20591G>A r.(=) p.(=)
EIF3M NM_006360.4 ?/. - c.*73165C>T r.(=) p.(=)