Genomic variant #0000149711

Individual ID 00091438
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.228172594T>C
DNA change (hg38) g.227307878T>C
Published as -
ISCN -
DB-ID COL4A3_000093 See all 19 reported entries
Variant remarks Missense
Reference PubMed: Badenas 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00308 View details
Owner Judy Savige




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COL4A3 NM_000091.4 ./. 48 c.4421T>C - r.(?) p.(Leu1474Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000091583 DNA SSCA;SEQ - - COL4A3 1 Judy Savige