Full data view for gene KCNB2

Information The variants shown are described using the NM_004770.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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.= r.= p.= Unknown - pathogenic (recessive) NC_000023.10:g.33038317_33229399ins[g.73787774_73793824;C;[NC_000023.10:33227444_33227460]] - - - KCNB2_000000 - PubMed: Zie 2022 - - DUPLICATE record - - - - - DNA, RNA RT-PCR, SEQ, SEQ-ON - Genomic short- and long-read whole DMD gene sequencing, dystrophin protein and DMD mRNA studies hCK patient PubMed: Zie 2022 - M no China - - - - - 1 Zhiying Xie
+/. - c.281G>A r.(?) p.(Gly94Glu) Unknown ACMG pathogenic (dominant) g.73480250G>A g.72568015G>A - - KCNB2_000001 - PubMed: Bhat 2024, Journal: Bhat 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES/WGS trio NDD Pat2 PubMed: Bhat 2024, Journal: Bhat 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.472A>G r.(?) p.(Thr158Ala) Unknown ACMG likely pathogenic (dominant) g.73480441A>G g.72568206A>G - - KCNB2_000002 - PubMed: Bhat 2024, Journal: Bhat 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Bhat 2024, Journal: Bhat 2024 Epi25 exome study variant server - - - - - - - - 1 Johan den Dunnen
+?/. - c.472A>G r.(?) p.(Thr158Ala) Unknown ACMG likely pathogenic (dominant) g.73480441A>G g.72568206A>G - - KCNB2_000002 - PubMed: Bhat 2024, Journal: Bhat 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Bhat 2024, Journal: Bhat 2024 Epi25 exome study variant server - - - - - - - - 1 Johan den Dunnen
+/. - c.641C>T r.(?) p.(Thr214Met) Unknown ACMG pathogenic (dominant) g.73848231C>T g.72935996C>T - - KCNB2_000003 - PubMed: Bhat 2024, Journal: Bhat 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat4 PubMed: Bhat 2024, Journal: Bhat 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.724G>A r.(?) p.(Ala242Thr) Unknown ACMG pathogenic (dominant) g.73848314G>A g.72936079G>A - - KCNB2_000004 - PubMed: Leu 2015, PubMed: Bhat 2024, Journal: Bhat 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Leu 2015, PubMed: Bhat 2024, Journal: Bhat 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.827C>T r.(?) p.(Pro276Leu) Paternal (confirmed) ACMG pathogenic (dominant) g.73848417C>T g.72936182C>T - - KCNB2_000005 father mosaic (17T/192C) PubMed: Bhat 2024, Journal: Bhat 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat7 PubMed: Bhat 2024, Journal: Bhat 2024 family, patient and asymptomaticheterozygous carrier father M - - - - - - - 1 Johan den Dunnen
+/. - c.911G>A r.(?) p.(Arg304Gln) Unknown ACMG pathogenic (dominant) g.73848501G>A g.72936266G>A - - KCNB2_000006 - PubMed: Bhat 2024, Journal: Bhat 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat6 PubMed: Bhat 2024, Journal: Bhat 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.994T>G r.(?) p.(Tyr332Asp) Unknown ACMG pathogenic (dominant) g.73848584T>G g.72936349T>G - - KCNB2_000007 - PubMed: Bhat 2024, Journal: Bhat 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat5 PubMed: Bhat 2024, Journal: Bhat 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1124C>T r.(?) p.(Ala375Val) Unknown ACMG pathogenic (dominant) g.73848714C>T g.72936479C>T - - KCNB2_000008 - PubMed: Bhat 2024, Journal: Bhat 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Bhat 2024, Journal: Bhat 2024 Epi25 exome study variant server - - - - - - - - 1 Johan den Dunnen
+/. - c.1141A>G r.(?) p.(Thr381Ala) Unknown ACMG pathogenic (dominant) g.73848731A>G g.72936496A>G - - KCNB2_000009 - PubMed: Bhat 2024, Journal: Bhat 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat1 PubMed: Bhat 2024, Journal: Bhat 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.1937C>T r.(?) p.(Ala646Val) Unknown ACMG likely pathogenic (dominant) g.73849527C>T g.72937292C>T - - KCNB2_000010 - PubMed: Bhat 2024, Journal: Bhat 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES/WGS trio NDD Pat3 PubMed: Bhat 2024, Journal: Bhat 2024 - F - - - - - - - 1 Johan den Dunnen
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