All variants in the KCNQ2 gene

Information The variants shown are described using the NM_172107.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 6 c.917C>T r.(?) p.(Ala306Val) - likely pathogenic g.62070961G>A g.63439608G>A - - KCNQ2_000052 - - - - De novo - - - 0 - NeuroMeGen
+/. - c.917C>T r.(?) p.(Ala306Val) - pathogenic g.62070961G>A g.63439608G>A KCNQ2(NM_172107.4):c.917C>T (p.A306V) - KCNQ2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.917C>T r.(?) p.(Ala306Val) - pathogenic g.62070961G>A g.63439608G>A KCNQ2(NM_172107.4):c.917C>T (p.A306V) - KCNQ2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.917C>T r.(?) p.(Ala306Val) - likely pathogenic g.62070961G>A g.63439608G>A - - KCNQ2_000052 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs864321707 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.917C>T r.(?) p.(Ala306Val) - VUS g.62070961G>A g.63439608G>A NM_004518.4:c.917G>A (ALA306VAL) - KCNQ2_000052 father unavailable PubMed: Carvill 2013 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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