Genomic variant #0000150236

Individual ID 00091862
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.227954599G>A
DNA change (hg38) g.227089883G>A
Published as -
ISCN -
DB-ID COL4A4_000034 See all 12 reported entries
Variant remarks -
Reference PubMed: Baek 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.50904 View details
Owner Judy Savige




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
COL4A4 NM_000092.4 -/-? 21 c.1444C>T benign r.(?) p.(Pro482Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000092006 DNA SEQ - - COL4A4 1 Judy Savige