Unique variants in gene KRT5

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

16 entries on 1 page. Showing entries 1 - 16.
Legend  

Effect     

Reported     

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     
-?/. 1 - c.30G>A r.(?) p.(Arg10=) - likely benign g.52914051C>T g.52520267C>T KRT5(NM_000424.3):c.30G>A (p.R10=) - KRT5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.74C>T r.(?) p.(Pro25Leu) - pathogenic g.52914007G>A g.52520223G>A KRT5(NM_000424.3):c.74C>T (p.P25L) - KRT5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.110G>A r.(?) p.(Arg37Gln) - likely benign g.52913971C>T g.52520187C>T - - KRT5_000001 - PubMed: Prontera 2015, Journal: Prontera 2015 - rs61747181 Germline no - - - - Johan den Dunnen
-/. 3 - c.413G>A r.(?) p.(Gly138Glu) - benign g.52913668C>T g.52519884C>T KRT5(NM_000424.3):c.413G>A (p.G138E) - KRT5_000007 4 homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs11170164 Germline, CLASSIFICATION record - 4/2795 individuals, 234/2795 individuals - - - Mohammed Faruq, VKGL-NL_Groningen
+/. 1 - c.508G>A r.(?) p.(Glu170Lys) - pathogenic g.52913573C>T g.52519789C>T - - KRT5_000013 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs59115483 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. 1 - c.527A>G r.(?) p.(Asn176Ser) - pathogenic g.52913554T>C g.52519770T>C KRT5(NM_000424.3):c.527A>G (p.N176S) - KRT5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.530A>G r.(?) p.(Asn177Ser) - likely pathogenic g.52913551T>C g.52519767T>C KRT5(NM_000424.3):c.530A>G (p.N177S) - KRT5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.572A>C r.(?) p.(Gln191Pro) - pathogenic g.52912928T>G g.52519144T>G KRT5(NM_000424.3):c.572A>C (p.Q191P) - KRT5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.579C>A r.(?) p.(Asn193Lys) - pathogenic g.52912921G>T g.52519137G>T KRT5(NM_000424.3):c.579C>A (p.N193K) - KRT5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.596A>T r.(?) p.(Lys199Met) - pathogenic g.52912904T>A g.52519120T>A KRT5(NM_000424.3):c.596A>T (p.K199M) - KRT5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.927+1G>A r.spl? p.? - pathogenic g.52911680C>T - KRT5(NM_000424.3):c.927+1G>A - KRT5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1252G>A r.(?) p.(Glu418Lys) - pathogenic g.52910608C>T g.52516824C>T - - KRT5_000012 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs121912476 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.1263G>A r.(?) p.(Gly421=) - likely benign g.52910597C>T g.52516813C>T KRT5(NM_000424.3):c.1263G>A (p.G421=) - KRT5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1388T>C r.(?) p.(Leu463Pro) - pathogenic g.52910472A>G - KRT5(NM_000424.3):c.1388T>C (p.L463P) - KRT5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1607G>A r.(?) p.(Ser536Asn) - likely benign g.52908892C>T - KRT5(NM_000424.3):c.1607G>A (p.S536N) - KRT5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1649del r.(?) p.(Gly550AlafsTer77) - pathogenic g.52908855del g.52515071del KRT5(NM_000424.3):c.1649delG (p.G550Afs*77) - KRT5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend