Genomic variant #0000521883

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.155529767C>T
DNA change (hg38) -
Published as FGG(NM_000509.5):c.702G>A (p.(Trp234*))
ISCN -
DB-ID FGG_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
FGG NM_021870.2 +/. - c.702G>A pathogenic r.(?) p.(Trp234*) -