Genomic variant #0000150335

Individual ID 00091885
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.227895125A>G
DNA change (hg38) g.227030409A>G
Published as -
ISCN -
DB-ID COL4A4_000098
Variant remarks -
Reference PubMed: Baek 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.45409 View details
Owner Judy Savige




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COL4A4 NM_000092.4 -/-? 41i c.3973+34T>C benign r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000092105 DNA SEQ - - COL4A4 1 Judy Savige