Full data view for gene NPC1

Information The variants shown are described using the NM_000271.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 20 c.2932C>T r.2932c>u p.Arg978Cys Paternal (confirmed) - pathogenic g.21118615G>A g.23538651G>A - - NPC1_000007 - PubMed: Di Leo 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - NPC-1 15459971 PubMed: Di Leo 2004 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Italy - - 0 - - 2 Johan den Dunnen
+?/. - c.2932C>T r.(?) p.(Arg978Cys) Parent #1 - likely pathogenic g.21118615G>A g.23538651G>A - - NPC1_000007 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs28942108 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
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