Genomic variant #0000222888

Individual ID 00132806
Chromosome 18
Allele Paternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21120444T>C
DNA change (hg38) g.23540480T>C
Published as -
ISCN -
DB-ID NPC1_000009 See all 6 reported entries
Variant remarks -
Reference PubMed: Di Leo 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.44272 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPC1 NM_000271.4 -/. 17 c.2572A>G - r.2572a>g p.Ile858Val



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133640 DNA;RNA RT-PCR;SEQ - - NPC1 6 Johan den Dunnen