Screening #0000017875

Individual ID 00017893
Template protein
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
FGG fibrinogen gamma chain 4 q32.1 1 9 4 2018-06-03 afibrinogenemia, congenital, Dysfibrinogenemia, congenital



Variants found

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
4 Unknown g.155528085G>A g.154606933G>A Arg275Cys - FGG_000001 detected using protein sequencing PubMed: Terukina 1988, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen FGG +/. - - - - - 8 NM_021870.2:c.901C>T Osaka II - r.(?) p.Arg301Cys - - - - - - - - - - - - - - - - - - - - - - -
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