Full data view for gene NPC1

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
?/. 19 c.2861C>T r.(?) p.(Ser954Leu) Unknown - VUS g.21119369G>A g.23539405G>A - - NPC1_000002 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.2861C>T r.(?) p.(Ser954Leu) Unknown - pathogenic g.21119369G>A g.23539405G>A NPC1(NM_000271.5):c.2861C>T (p.S954L) - NPC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2861C>T r.(?) p.(Ser954Leu) Unknown - pathogenic (recessive) g.21119369G>A - - - NPC1_000002 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - NPC1 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
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