Genomic variant #0000149955

Individual ID 00091509
Chromosome 2
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.228142227G>A
DNA change (hg38) g.227277511G>A
Published as -
ISCN -
DB-ID COL4A3_000044 See all 11 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00017 View details
Owner Daniel Gale




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COL4A3 NM_000091.4 +/. 28 c.2083G>A - r.(?) p.(Gly695Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000091654 DNA SEQ - - COL4A3 3 Daniel Gale