Genomic variant #0000000440

Individual ID 00000082
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.74953134C>T
DNA change (hg38) g.74486431C>T
Published as -
ISCN -
DB-ID NPC2_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) 0.00192 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPC2 NM_006432.3 ?/. 2 c.88G>A - r.(?) p.(Val30Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000082 DNA SEQ-NG - - ATP7B, CPT1A, CYP21A2, ETFB, FAH, GLB1, MCOLN1, MYO5A, NHLRC1, NPC2 11 LOVD-team, but with Curator vacancy