Genomic variant #0000038092

Individual ID 00017893
Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.155528085G>A
DNA change (hg38) g.154606933G>A
Published as Arg275Cys
ISCN -
DB-ID FGG_000001 See all 3 reported entries
Variant remarks detected using protein sequencing
Reference PubMed: Terukina 1988, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
FGG NM_021870.2 +/. 8 c.901C>T - r.(?) p.Arg301Cys Osaka II



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017875 protein SEQ - - FGG 1 Johan den Dunnen