Genomic variant #0000242775

Individual ID 00148570
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21116809_21116816delinsA
DNA change (hg38) -
Published as -
ISCN -
DB-ID NPC1_000013
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gemeinschaftspraxis für Humangenetik Dresden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPC1 NM_000271.4 +/. 21 c.3066_3073delinsT - r.(?) p.(Val1023Serfs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149426 DNA PCR - - NPC1 1 Gemeinschaftspraxis für Humangenetik Dresden