Genomic variant #0000000679

Individual ID 00000071
Chromosome 18
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21140411T>C
DNA change (hg38) g.23560447T>C
Published as -
ISCN -
DB-ID NPC1_000001 See all 6 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00454 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPC1 NM_000271.4 ?/. 6 c.665A>G - r.(?) p.(Asn222Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000071 DNA SEQ-NG - - ATP7B, ETFB, LAMA2, MTHFR, NHLRC1, NPC1, OFD1, PAH, SERPINA1, SMPD1 12 LOVD-team, but with Curator vacancy