Full data view for gene NPHP4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_015102.4 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.3859C>G r.(?) p.(Gln1287Glu) Unknown - VUS g.5924535G>C g.5864475G>C - - NPHP4_000006 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ, arraySNP, PCR - - autism, BMD/DMD, HD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.3859C>G r.(?) p.(Gln1287Glu) Parent #1 - pathogenic g.5924535G>C g.5864475G>C - - NPHP4_000006 - PubMed: Zhao 2015 - - Germline - - - 0 - DNA SEQ-NG - 86-gene panel retinal disease Rp131 PubMed: Zhao 2015 simplex case - - Northern Ireland - - 0 - - 1 LOVD
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