Genomic variant #0000222891

Individual ID 00132806
Chromosome 18
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21137182T>C
DNA change (hg38) g.23557218T>C
Published as -
ISCN -
DB-ID NPC1_000012
Variant remarks branchpoint variant
Reference PubMed: Di Leo 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPC1 NM_000271.4 +/. 6i c.882-28A>G - r.882_955del p.Lys295Argfs*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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