All variants in the KLC2 gene

Information The variants shown are described using the 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.-431G>A r.(?) p.(=) - VUS g.66024960G>A g.66257489G>A KLC2(NM_001134775.1):c.-49+1G>A - KLC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. _1 - r.? p.? - pathogenic (recessive) g.66024557_66024773del g.66257086_66257302del - - KLC2_000002 1.48 to 1.74 increased KLC2 expression; not in 474 controls PubMed: Melo 2015 - - Germline - - - - - Johan den Dunnen
+/. _1 - r.? p.? - pathogenic (recessive) g.66024557_66024773del g.66257086_66257302del - - KLC2_000002 - PubMed: Melo 2015 - - Germline - - - - - Johan den Dunnen
-?/. - c.291G>A r.(?) p.(Ala97=) - likely benign g.66029275G>A - KLC2(NM_022822.3):c.291G>A (p.A97=) - KLC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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