Genomic variant #0000149783

Individual ID 00091510
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.228145177G>A
DNA change (hg38) g.227280461G>A
Published as G2083A
ISCN -
DB-ID COL4A3_000223 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Daniel Gale




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COL4A3 NM_000091.4 ?/. 28 c.2245G>A - r.(?) p.(Gly695Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000091655 DNA PCR;SEQ - - COL4A3 2 Daniel Gale