Variant #0000276535 (NC_000015.9:g.80472513C>T, FAH(NM_000137.2):c.1008C>T)

Chromosome 15
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.80472513C>T
DNA change (hg38) g.80180171C>T
Published as FAH(NM_000137.2):c.1008C>T (p.N336=)
ISCN -
DB-ID FAH_000024
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 9.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FAH NM_000137.2 -?/. - c.1008C>T r.(?) p.(Asn336=)