Variant #0000555594 (NC_000015.9:g.80465488T>C, FAH(NM_000137.2):c.837+2T>C)

Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.80465488T>C
DNA change (hg38) g.80173146T>C
Published as FAH(NM_000137.2):c.837+2T>C
ISCN -
DB-ID FAH_000040
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_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FAH NM_000137.2 ?/. - c.837+2T>C r.spl? p.?