Full data view for gene NUP107

Information The variants shown are described using the NM_020401.2 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.303G>A r.(?) p.(Met101Ile) Both (homozygous) - likely pathogenic (recessive) g.69084526G>A g.68690746G>A - - NUP107_000004 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES ? 25558065-Fam11DG0417 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - 0 - - 3 Johan den Dunnen
+/. - c.303G>A r.(?) p.(Met101Ile) Both (homozygous) - pathogenic g.69084526G>A g.68690746G>A - - NUP107_000004 - PubMed: Anazi 2017 - - Germline - - - 0 - DNA SEQ-NG - WES ID 11DG0417 PubMed: Anazi 2017 familial M yes Saudi Arabia - - 0 - - 1 Johan den Dunnen
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