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     
+?/. - c.410C>T r.(?) p.(Thr137Met) Unknown - likely pathogenic g.21148840G>A - NPC1(NM_000271.4):c.410C>T (p.T137M) - NPC1_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.410C>T r.(?) p.(Thr137Met) Parent #2 - pathogenic (recessive) g.21148840G>A g.23568876G>A - - NPC1_000188 - PubMed: Fernandez-Valero 2005 - - Germline - - - - - DNA SEQ - - NP Pat34 PubMed: Fernandez-Valero 2005 - - - Spain - - - - - 1 Johan den Dunnen
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