Genomic variant #0000150251

Individual ID 00091864
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.227945266C>G
DNA change (hg38) g.227080550C>G
Published as -
ISCN -
DB-ID COL4A4_000039
Variant remarks intronic/ splice site
Reference PubMed: Badenas 2002
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     
COL4A4 NM_000092.4 +?/. 23i c.1697-1G>C r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000092021 DNA SSCA;SEQ - - COL4A4 1 Judy Savige