Genomic variant #0000344065

Chromosome 4
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.155527950C>G
DNA change (hg38) -
Published as FGG:NM_000509.5:c.1036G>C (Asp346His)
ISCN -
DB-ID FGG_000003
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
FGG NM_021870.2 +?/. - c.1036G>C likely pathogenic r.(?) p.(Asp346His) -