Full data view for gene PHOX2B

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 3 c.765_779del Ala-15 - r.(?) p.(Ala256_Ala260del) Parent #1 g.41747990_41748004del g.41745973_41745987del - - PHOX2B_000030 - PubMed: Arai 2007, Journal: Arai 2007 - - Germline - 2/24 chromosomes - 0 - DNA SEQ - - Healthy/Control - PubMed: Arai 2007, Journal: Arai 2007 6 sequenced parent couples F;M - Japan - - 0 - - 12 Johan den Dunnen
-/- 3 c.765_779del Ala-15 - r.(?) p.(Ala256_Ala260del) Maternal (confirmed) g.41747990_41748004del g.41745973_41745987del - - PHOX2B_000030 - PubMed: Arai 2007, Journal: Arai 2007 - - Germline - - - 0 - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/- 3 c.765_779del Ala-15 - r.(?) p.(Ala256_Ala260del) Maternal (confirmed) g.41747990_41748004del g.41745973_41745987del - - PHOX2B_000030 - PubMed: Arai 2007, Journal: Arai 2007 - - Germline - - - 0 - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.765_779del - benign r.(?) p.(Ala256_Ala260del) Unknown g.41748001_41748015del - PHOX2B(NM_003924.3):c.765_779delGGCAGCGGCGGCAGC (p.A256_A260del) - PHOX2B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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