All variants in the IQCB1 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001023570.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.1441G>A r.(?) p.(Glu481Lys) - likely benign g.121491530C>T g.121772683C>T IQCB1(NM_001023570.3):c.1441G>A (p.E481K), IQCB1(NM_001023570.4):c.1441G>A (p.E481K) - IQCB1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1441G>A r.(?) p.(Glu481Lys) - VUS g.121491530C>T g.121772683C>T IQCB1(NM_001023570.3):c.1441G>A (p.E481K), IQCB1(NM_001023570.4):c.1441G>A (p.E481K) - IQCB1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1441G>A r.(?) p.(Glu481Lys) ACMG likely pathogenic g.121491530C>T g.121772683C>T IQCB1 c.1441G>A, p.(Glu481Lys) - IQCB1_000047 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - LOVD
?/. 14 c.1441G>A r.(?) p.(Glu481Lys) - VUS g.121491530C>T - IQCB1/NPHP5:p.[E481K];[=] - IQCB1_000047 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - - - LOVD
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