Variant #0000543826 (NC_000011.9:g.32657291T>C, CCDC73(NM_001008391.2):c.1008+1A>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.32657291T>C
DNA change (hg38) g.32635745T>C
Published as CCDC73(NM_001008391.3):c.1136A>G (p.Y379C)
ISCN -
DB-ID EIF3M_000001
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_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     
CCDC73 NM_001008391.2 ?/. - c.1008+1A>G r.spl? p.?
EIF3M NM_006360.4 ?/. - c.*33346T>C r.(=) p.(=)