Genomic variant #0000315705

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.94809555G>A
DNA change (hg38) -
Published as SPTLC1(NM_001281303.1):c.985-5C>T
ISCN -
DB-ID SPTLC1_000023
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) 0.00354 View details
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SPTLC1 NM_006415.2 -/. - c.985-5C>T benign r.spl? p.?