Genomic variant #0000038093

Individual ID 00017894
Chromosome 4
Allele Parent #1
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: Schmelzer 1989, 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 Baltimore IV



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000017876 protein SEQ - - FGG 1 Johan den Dunnen