Genomic variant #0000150264

Individual ID 00091989
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.227924361dupT
DNA change (hg38) g.227059645dupT
Published as 2165-27insA
ISCN -
DB-ID COL4A4_000050
Variant remarks -
Reference PubMed: Slajpah 2007
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     
COL4A4 NM_000092.4 -/-? 27i c.2165-22dupA benign r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000092034 DNA SSCA;SEQ - - COL4A4 1 Judy Savige