Variant #0000683516 (NC_000003.11:g.130140181T>G, COL6A5(NM_153264.5):c.5014T>G)

Individual ID 00307914
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.130140181T>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID COL6A5_000010
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Tawfiq Froukh
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL6A5 NM_153264.5 +?/. - c.5014T>G r.(?) p.(Phe1672Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309058 DNA SEQ-NG-I - - - 1 Tawfiq Froukh