Full data view for gene KRT5

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

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.30G>A r.(?) p.(Arg10=) Unknown - likely benign g.52914051C>T g.52520267C>T KRT5(NM_000424.4):c.30G>A (p.R10=) - KRT5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.74C>T r.(?) p.(Pro25Leu) Unknown - pathogenic g.52914007G>A g.52520223G>A KRT5(NM_000424.4):c.74C>T (p.P25L) - KRT5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.110G>A r.(?) p.(Arg37Gln) Both (homozygous) - likely benign g.52913971C>T g.52520187C>T - - KRT5_000001 - PubMed: Prontera 2015, Journal: Prontera 2015 - rs61747181 Germline no - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - SHORT - PubMed: Prontera 2015, Journal: Prontera 2015 5-generation family, 1 affected (SHORT syndrome), heterozygous carriers have short stature F yes Italy - - - - - 1 B. Augello
?/. - c.358G>A r.(?) p.(Gly120Arg) Unknown - VUS g.52913723C>T - KRT5(NM_000424.4):c.358G>A (p.G120R) - KRT5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.413G>A r.(?) p.(Gly138Glu) Unknown - benign g.52913668C>T g.52519884C>T KRT5(NM_000424.4):c.413G>A (p.G138E) - KRT5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.413G>A r.(?) p.(Gly138Glu) Parent #1 - benign g.52913668C>T g.52519884C>T - - KRT5_000007 234 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11170164 Germline - 234/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 234 Mohammed Faruq
-/. - c.413G>A r.(?) p.(Gly138Glu) Both (homozygous) - benign g.52913668C>T g.52519884C>T - - KRT5_000007 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11170164 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+?/. - c.423_425dup r.(?) p.(Glu142dup) Unknown - likely pathogenic g.52913657_52913659dup - KRT5(NM_000424.4):c.423_425dupAGA (p.E142dup) - KRT5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.451A>C r.(?) p.(Thr151Pro) Unknown - likely pathogenic g.52913630T>G - KRT5(NM_000424.4):c.451A>C (p.T151P) - KRT5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.506G>A r.(?) p.(Arg169His) Unknown - VUS g.52913575C>T - KRT5(NM_000424.4):c.506G>A (p.(Arg169His)) - KRT5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.508G>A r.(?) p.(Glu170Lys) Parent #1 - pathogenic g.52913573C>T g.52519789C>T - - KRT5_000013 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs59115483 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.527A>G r.(?) p.(Asn176Ser) Unknown - pathogenic g.52913554T>C g.52519770T>C KRT5(NM_000424.4):c.527A>G (p.N176S) - KRT5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.530A>G r.(?) p.(Asn177Ser) Unknown - likely pathogenic g.52913551T>C g.52519767T>C KRT5(NM_000424.4):c.530A>G (p.N177S) - KRT5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.555G>A r.(?) p.(=) Unknown - VUS g.52913526C>T - KRT5(NM_000424.3):c.555G>A (p.(Lys185Lys)) - KRT5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.556G>A r.(?) p.(Val186Met) Unknown - pathogenic g.52912944C>T - KRT5(NM_000424.4):c.556G>A (p.V186M) - KRT5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.560G>C r.(?) p.(Arg187Pro) Unknown - pathogenic g.52912940C>G - KRT5(NM_000424.4):c.560G>C (p.R187P) - KRT5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.572A>C r.(?) p.(Gln191Pro) Unknown - pathogenic g.52912928T>G g.52519144T>G KRT5(NM_000424.4):c.572A>C (p.Q191P) - KRT5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.579C>A r.(?) p.(Asn193Lys) Unknown - pathogenic g.52912921G>T g.52519137G>T KRT5(NM_000424.4):c.579C>A (p.N193K) - KRT5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.591C>A r.(?) p.(Asp197Glu) Unknown - benign g.52912909G>T - KRT5(NM_000424.4):c.591C>A (p.D197E) - KRT5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.596A>T r.(?) p.(Lys199Met) Unknown - pathogenic g.52912904T>A g.52519120T>A KRT5(NM_000424.4):c.596A>T (p.K199M) - KRT5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.596A>T r.(?) p.(Lys199Met) Unknown - pathogenic g.52912904T>A - KRT5(NM_000424.4):c.596A>T (p.K199M) - KRT5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.605T>C r.(?) p.(Leu202Pro) Unknown - likely pathogenic g.52912895A>G - KRT5(NM_000424.4):c.605T>C (p.L202P) - KRT5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.781G>A r.(?) p.(Glu261Lys) Unknown - VUS g.52911937C>T - KRT5(NM_000424.4):c.781G>A (p.E261K) - KRT5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.927+1G>A r.spl? p.? Unknown - pathogenic g.52911680C>T - KRT5(NM_000424.4):c.927+1G>A - KRT5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.935C>T r.(?) p.(Ser312Phe) Unknown - VUS g.52911531G>A - KRT5(NM_000424.4):c.935C>T (p.S312F) - KRT5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.973C>T r.(?) p.(Leu325Phe) Unknown - pathogenic g.52911493G>A - KRT5(NM_000424.4):c.973C>T (p.L325F) - KRT5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.991C>A r.(?) p.(Arg331Ser) Unknown - pathogenic g.52911475G>T - KRT5(NM_000424.4):c.991C>A (p.R331S) - KRT5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.992G>A r.(?) p.(Arg331His) Unknown ACMG likely pathogenic (dominant) g.52911474C>T - - - KRT5_000017 ACMG: PP3, PM2, PS4_MOD, PM5: class 4 PMID:18704110 PMID:16786515 PMID:20060687 - - Germline ? - - - - DNA SEQ-NG-I - - EBSND 173602 - - M ? Germany - - - - - 1 Andreas Laner
+/. - c.992G>A r.(?) p.(Arg331His) Unknown - pathogenic g.52911474C>T - KRT5(NM_000424.4):c.992G>A (p.R331H) - KRT5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1072G>A r.(?) p.(Glu358Lys) Unknown - VUS g.52911394C>T - KRT5(NM_000424.4):c.1072G>A (p.(Glu358Lys)) - KRT5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1219-4G>C r.spl? p.? Unknown - likely benign g.52910645C>G - KRT5(NM_000424.4):c.1219-4G>C - KRT5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1252G>A r.(?) p.(Glu418Lys) Parent #1 - pathogenic g.52910608C>T g.52516824C>T - - KRT5_000012 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121912476 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1263G>A r.(?) p.(Gly421=) Unknown - likely benign g.52910597C>T g.52516813C>T KRT5(NM_000424.4):c.1263G>A (p.G421=) - KRT5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1313C>A r.(?) p.(Ala438Asp) Unknown - pathogenic g.52910547G>T - KRT5(NM_000424.4):c.1313C>A (p.A438D) - KRT5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1315del r.(?) p.(Leu439Cysfs*19) Unknown - pathogenic g.52910547del - KRT5(NM_000424.4):c.1315delC (p.L439Cfs*19) - KRT5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1388T>C r.(?) p.(Leu463Pro) Unknown - pathogenic g.52910472A>G - KRT5(NM_000424.4):c.1388T>C (p.L463P) - KRT5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1396G>A r.(?) p.(Glu466Lys) Unknown - likely pathogenic g.52910464C>T - KRT5(NM_000424.4):c.1396G>A (p.E466K) - KRT5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1474+6T>G r.(=) p.(=) Unknown - VUS g.52909576A>C - KRT5(NM_000424.4):c.1474+6T>G - KRT5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1607G>A r.(?) p.(Ser536Asn) Unknown - likely benign g.52908892C>T - KRT5(NM_000424.3):c.1607G>A (p.S536N) - KRT5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1649del r.(?) p.(Gly550AlafsTer77) Unknown - pathogenic g.52908855del g.52515071del KRT5(NM_000424.4):c.1649delG (p.G550Afs*77) - KRT5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1723G>A r.(?) p.(Val575Ile) Unknown - VUS g.52908776C>T - KRT5(NM_000424.4):c.1723G>A (p.V575I) - KRT5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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