Screening #0000091655

Individual ID 00091510
Template DNA
Technique PCR;SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Daniel Gale


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 2 q36-q37 1 925 553 2019-07-12 ASAD, ASAR, BFH;TBMN



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
2 Unknown ?/. g.228145177G>A g.227280461G>A G2083A - COL4A3_000223 - - - - Germline - - - 0 - Daniel Gale COL4A3 - - - - - 28 NM_000091.4:c.2245G>A - - r.(?) p.(Gly695Arg) - - - - - - - - - - - - - - - - - - -
2 Unknown +/. g.228145177G>A g.227280461G>A - - COL4A3_000223 - - - - Germline - - - 0 - Daniel Gale COL4A3 - - - - - 28 NM_000091.4:c.2245G>A - - r.(?) ? - - - - - - - - - - - - - - - - - - -
Legend