Genomic variant #0000149648

Individual ID 00091375
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.228142214T>A
DNA change (hg38) g.227277498T>A
Published as -
ISCN -
DB-ID COL4A3_000043
Variant remarks Polymorphism
Reference PubMed: Wang 2004
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COL4A3 NM_000091.4 ./. 28 c.2070T>A - r.(?) p.(Pro690=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000091520 DNA SSCA;SEQ - - COL4A3 1 Judy Savige