Unique variants in gene KRT5

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

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. 1 - c.30G>A likely benign r.(?) p.(=) g.52914051C>T - KRT5(NM_000424.3):c.30G>A (p.R10=) - KRT5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.74C>T pathogenic r.(?) p.(Pro25Leu) g.52914007G>A - KRT5(NM_000424.3):c.74C>T (p.P25L) - KRT5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.110G>A - r.(?) p.(Arg37Gln) g.52913971C>T g.52520187C>T - - KRT5_000001 - PubMed: Prontera 2015, Journal: Prontera 2015 - rs61747181 Germline no - - - - Johan den Dunnen
-/. 1 - c.413G>A benign r.(?) p.(Gly138Glu) g.52913668C>T - KRT5(NM_000424.3):c.413G>A (p.G138E) - KRT5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.527A>G pathogenic r.(?) p.(Asn176Ser) g.52913554T>C - KRT5(NM_000424.3):c.527A>G (p.N176S) - KRT5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.530A>G likely pathogenic r.(?) p.(Asn177Ser) g.52913551T>C - KRT5(NM_000424.3):c.530A>G (p.N177S) - KRT5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.572A>C pathogenic r.(?) p.(Gln191Pro) g.52912928T>G - KRT5(NM_000424.3):c.572A>C (p.Q191P) - KRT5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.579C>A pathogenic r.(?) p.(Asn193Lys) g.52912921G>T - KRT5(NM_000424.3):c.579C>A (p.N193K) - KRT5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.596A>T pathogenic r.(?) p.(Lys199Met) g.52912904T>A - KRT5(NM_000424.3):c.596A>T (p.K199M) - KRT5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1263G>A likely benign r.(?) p.(=) g.52910597C>T - KRT5(NM_000424.3):c.1263G>A (p.G421=) - KRT5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1649del pathogenic r.(?) p.(Gly550Alafs*77) g.52908855del - KRT5(NM_000424.3):c.1649delG (p.G550Afs*77) - KRT5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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