All transcript variants in gene KRT5

Information The variants shown are described using the NM_000424.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.413G>A r.(?) p.(Gly138Glu) - benign g.52913668C>T g.52519884C>T KRT5(NM_000424.3):c.413G>A (p.G138E) - KRT5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.413G>A r.(?) p.(Gly138Glu) - benign g.52913668C>T g.52519884C>T - - KRT5_000007 234 heterozygous; Clinindb (India) Faruq 2020, submtted - rs11170164 Germline - 234/2795 individuals - 0 - Mohammed Faruq
-/. - c.413G>A r.(?) p.(Gly138Glu) - benign g.52913668C>T g.52519884C>T - - KRT5_000007 4 homozygous; Clinindb (India) Faruq 2020, submtted - rs11170164 Germline - 4/2795 individuals - 0 - Mohammed Faruq
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