Full data view for gene NPC1

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

67 entries on 1 page. Showing entries 1 - 67.
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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.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G NPC1(NM_000271.4):c.3182T>C (p.I1061T), NPC1(NM_000271.5):c.3182T>C (p.I1061T) - NPC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G NPC1(NM_000271.4):c.3182T>C (p.I1061T), NPC1(NM_000271.5):c.3182T>C (p.I1061T) - NPC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - likely pathogenic (recessive) g.21116700A>G - - - NPC1_000030 - PubMed: Stalke 2018 - - Germline - - - - - DNA SEQ - - NP Fam19PatLP142 PubMed: Stalke 2018 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Zhu 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio95 PubMed: Zhu 2015 - M - United States - - - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Fancello 2009 - - Germline - - - - - DNA SEQ - - NP NP25 PubMed: Fancello 2009 - - - Italy - - - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Fancello 2009 - - Germline - - - - - DNA SEQ - - NP NP32 PubMed: Fancello 2009 - - - Italy - - - - - 3 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Parent #2 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Fancello 2009 - - Germline - - - - - DNA SEQ - - NP NP28 PubMed: Fancello 2009 - - - Italy - - - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 96127 PubMed: Millat 2005 - - - France - 8m - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 94102 PubMed: Millat 2005 - - - France - 11m - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 250 PubMed: Millat 2005 - - - France - 16y6m - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 85091 PubMed: Millat 2005 - - - France - 27y - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 24129 PubMed: Millat 2005 - - - Belgium - - - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 96091 PubMed: Millat 2005 - - - France - - - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Parent #2 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 23015 PubMed: Millat 2005 - - - France - - - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Parent #2 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 20019 PubMed: Millat 2005 - - - France - - - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Parent #2 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 96054 PubMed: Millat 2005 - - - France - - - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Parent #2 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 84045 PubMed: Millat 2005 - - - France - - - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Parent #2 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 98142 PubMed: Millat 2005 - - - Germany - - - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Parent #2 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 96133 PubMed: Millat 2005 - - - France - - - - - 1 Johan den Dunnen
+/. 21 c.3182T>C r.(?) p.(Ile1061Thr) Parent #2 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Millat 2005 - - Germline - - - - - DNA DHPLC, SEQ - - NP 89090 PubMed: Millat 2005 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat2 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat3 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat4 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat5 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat9 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - 9y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat11 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - 9y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat12 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat15 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - 28y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat18 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat19 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat22 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat23 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - 9y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat25 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP FamDPat30 PubMed: Imrie 2007 family, 2 affected sibs M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat33 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - 32y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat36 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat47 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - 12y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat37 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat39 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat41 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - 14y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat42 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - 16y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat45 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat49 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - 9y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat51 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - 9y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2002, PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat56 PubMed: Imrie 2002, PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat61 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP FamEPat34 PubMed: Imrie 2007 family, 2 affected sibs M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat60 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat65 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat66 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat71 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - 22y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2002, PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP FamEPat72 PubMed: Imrie 2002, PubMed: Imrie 2007 sib M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat73 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - 30y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2002, PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP FamIPat79 PubMed: Imrie 2002, PubMed: Imrie 2007 family, 2 affected sibs F - United Kingdom (Great Britain) - 23y - - - 2 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2002, PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP FamIPat83 PubMed: Imrie 2002, PubMed: Imrie 2007 sib M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat90 PubMed: Imrie 2007 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat93 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G g.23536736A>G I1061T - NPC1_000030 unknown variant 2nd chromosome PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP FamDPat26 PubMed: Imrie 2007 sib M - United Kingdom (Great Britain) - 11y - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #2 - pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T - NPC1_000030 - PubMed: Imrie 2007 - - Germline - - - - - DNA SEQ - - NP Pat58 PubMed: Imrie 2007 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Fernandez-Valero 2005 - - Germline - - - - - DNA SEQ - - NP Pat5 PubMed: Fernandez-Valero 2005 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Fernandez-Valero 2005 - - Germline - - - - - DNA SEQ - - NP Pat6 PubMed: Fernandez-Valero 2005 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Both (homozygous) - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Fernandez-Valero 2005 - - Germline - - - - - DNA SEQ - - NP Pat8 PubMed: Fernandez-Valero 2005 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Fernandez-Valero 2005 - - Germline - - - - - DNA SEQ - - NP Pat22 PubMed: Fernandez-Valero 2005 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #1 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Fernandez-Valero 2005 - - Germline - - - - - DNA SEQ - - NP Pat34 PubMed: Fernandez-Valero 2005 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Parent #2 - pathogenic (recessive) g.21116700A>G g.23536736A>G - - NPC1_000030 - PubMed: Fernandez-Valero 2005 - - Germline - - - - - DNA SEQ - - NP Pat20 PubMed: Fernandez-Valero 2005 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.3182T>C r.(?) p.(Ile1061Thr) Unknown - pathogenic g.21116700A>G - NPC1(NM_000271.4):c.3182T>C (p.I1061T), NPC1(NM_000271.5):c.3182T>C (p.I1061T) - NPC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3182T>G r.(?) p.(Ile1061Thr) Maternal (confirmed) - likely pathogenic (recessive) g.21116700A>G g.23536736A>G I1061T/-238C>G - NPC1_000030 no variant 2nd chromosome PubMed: Bauer 2002 - - Germline - - - - - DNA SEQ - - NP Fam4 PubMed: Bauer 2002 - M - Germany - - - - - 1 Johan den Dunnen
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