Full data view for gene PHOX2B

Information The variants shown are described using the NM_003924.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Amiel 2003, Journal: Amiel 2003 - - De novo - - - - - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - - - PHOX2B_000003 - PubMed: Amiel 2003, Journal: Amiel 2003 - - Unknown - - - - - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[26]) Unknown - pathogenic g.41747989_41748049NGC[25] - - - PHOX2B_000003 - PubMed: Amiel 2003, Journal: Amiel 2003 - - Unknown - - - - - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - - - PHOX2B_000003 - PubMed: Amiel 2003, Journal: Amiel 2003 - - De novo - - - - - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Antic 2006, Journal: Antic 2006 - - Germline yes - - - - DNA PCR - - CCHS - PubMed: Antic 2006, Journal: Antic 2006 2-generation family, 3 affecteds,mother/2 children - - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Antic 2006, Journal: Antic 2006 - - Unknown - - - - - DNA PCR - - CCHS - PubMed: Antic 2006, Journal: Antic 2006 - - - Australia - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Antic 2006, Journal: Antic 2006 - - Unknown - - - - - DNA PCR - - CCHS - PubMed: Antic 2006, Journal: Antic 2006 - - - Germany - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Antic 2006, Journal: Antic 2006 - - Germline yes - - - - DNA PCR - - CCHS - PubMed: Antic 2006, Journal: Antic 2006 2-generation family, 3 affecteds,mother/2 children - - United States - - - - - 3 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Antic 2006, Journal: Antic 2006 - - Unknown - - - - - DNA PCR - - CCHS - PubMed: Antic 2006, Journal: Antic 2006 - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Unknown - 35/188 cases - - - DNA PCR - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 35 Johan den Dunnen
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