Genomic variant #0000149628

Individual ID 00091355
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.228131203C>A
DNA change (hg38) g.227266487C>A
Published as -
ISCN -
DB-ID COL4A3_000030
Variant remarks Polymorphism
Reference PubMed: Rana 2007
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 Judy Savige
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL4A3 NM_000091.4 -/-? 22 c.1386C>A r.(?) p.(Ile462Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000091500 DNA SSCA;SEQ - - COL4A3 1 Judy Savige