Variant #0000040531 (NC_000001.10:g.234510049T>C, COA6(NM_001012985.2):c.196T>C)

Individual ID 00020015
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.234510049T>C
DNA change (hg38) g.234374303T>C
Published as -
ISCN -
DB-ID COA6_000001
Variant remarks -
Reference submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Richard Rodenburg
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COA6 NM_001012985.2 ?/. 2 c.196T>C r.(?) p.(Trp66Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000020011 DNA SEQ;SEQ-NG-I - - COA6 1 Richard Rodenburg