All transcript variants in gene KRT14

Information The variants shown are described using the NM_000526.4 transcript reference sequence.

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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.1231_1233del r.(?) p.(Glu411del) - pathogenic g.39739530_39739532del g.41583278_41583280del KRT14(NM_000526.4):c.1231_1233delGAG (p.E411del) - KRT14_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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