Full data view for gene KRT4

Information The variants shown are described using the NM_002272.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.197_198insTGCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGG r.(?) p.(Ala66_Gly67insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly) Both (homozygous) - VUS g.53207645_53207646insCCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGGCA g.52813861_52813862insCCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGGCA ENST00000458244:c.199_200insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG - KRT4_000018 - PubMed: Chatron 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DEE FamFPatIV1 PubMed: Chatron 2020 3-generation family, 1 affected brother, unaffected heterozygous parents/relatives F yes Brazil - - - - - 1 Johan den Dunnen
-?/. - c.206G>T r.(?) p.(Arg69Leu) Unknown - likely benign g.53207637C>A g.52813853C>A KRT4(NM_002272.3):c.206G>T (p.R69L) - KRT4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.228T>G r.(?) p.(Gly76=) Unknown - likely benign g.53207615A>C g.52813831A>C KRT4(NM_002272.3):c.228T>G (p.G76=) - KRT4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG r.(?) p.(Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly) Both (homozygous) - likely benign g.52813818_52813819insGAAACCAGCTCCGAAGCCGCCGGCACCAAAGCCACCAGTGCC g.53207602_53207603insGAAACCAGCTCCGAAGCCGCCGGCACCAAAGCCACCAGTGCC - - KRT4_000017 - PubMed: Naqvi 2022 - rs11267392 Germline - - - - - DNA SEQ, SEQ-NG - WES MCPH family PubMed: Naqvi 2022 5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG r.(?) p.(Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly) Unknown - likely benign g.53207602_53207603insGAAACCAGCTCCGAAGCCGCCGGCACCAAAGCCACCAGTGCC - KRT4(NM_002272.4):c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG (p.(Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly)) - KRT4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.287A>C r.(?) p.(Lys96Thr) Unknown - benign g.53207556T>G g.52813772T>G KRT4(NM_002272.3):c.287A>C (p.K96T) - KRT4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.404C>T r.(?) p.(Thr135Met) Parent #1 - likely benign g.53207439G>A g.52813655G>A - - KRT4_000009 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17119475 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+?/. - c.417_419dup r.417_419dup p.Gln140dup Unknown - benign (!) g.53207425_53207427dup g.52813641_52813643dup 458_459insACA - KRT4_000012 - PubMed: Terrinoni 2000 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - WSN1 family PubMed: Terrinoni 2000 2-generation family, affected mother/daughter/son F;M - Italy - - - - - 3 Johan den Dunnen
+/. - c.438_440del r.438_440del p.Asn146del Maternal (confirmed) - pathogenic (dominant) g.53207409_53207411del g.52813625_52813627del - - KRT4_000014 - PubMed: Rugg 1995 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - WSN1 Fam1 PubMed: Rugg 1995 2-generation family, 4 affected (3F, M), F;M - Scotland - - - - - 4 Johan den Dunnen
+/. - c.438_440del r.438_440del p.Asn146del Paternal (confirmed) - pathogenic (dominant) g.53207409_53207411del g.52813625_52813627del 657_659delCAA - KRT4_000014 - PubMed: Rugg 1995 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - WSN1 Fam2 PubMed: Rugg 1995 2-generation family, affected father, twin daughters and son (2F, 2M) F;M - Scotland - - - - - 4 Johan den Dunnen
-?/. - c.516C>A r.(?) p.(Leu172=) Unknown - likely benign g.53205708G>T g.52811924G>T KRT4(NM_002272.3):c.516C>A (p.L172=) - KRT4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.678-14G>A r.(=) p.(=) Unknown - benign g.53204614C>T g.52810830C>T KRT4(NM_002272.4):c.678-14G>A - KRT4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.766G>A r.(?) p.(Val256Met) Unknown - VUS g.53203235C>T g.52809451C>T KRT4(NM_002272.3):c.766G>A (p.V256M) - KRT4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870G>A r.(?) p.(Thr290=) Unknown - likely benign g.53202599C>T g.52808815C>T KRT4(NM_002272.3):c.870G>A (p.T290=) - KRT4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909C>T r.(?) p.(Asp303=) Unknown - likely benign g.53202560G>A - KRT4(NM_002272.3):c.909C>T (p.D303=) - KRT4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1009C>T r.(?) p.(Leu337Phe) Unknown - VUS g.53202194G>A - KRT4(NM_002272.3):c.1009C>T (p.L337F) - KRT4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1303G>A r.(?) p.(Glu435Lys) Paternal (confirmed) - pathogenic (dominant) g.53201471C>T g.52807687C>T 1345G>A (E449K) - KRT4_000013 - PubMed: Chao 2003 - rs62642055 Germline yes - - - - DNA SEQ - - WSN1 family PubMed: Chao 2003 2-generation family, affected father/son M - Taiwan - - - - - 2 Johan den Dunnen
+/. - c.1336G>A r.(?) p.(Glu446Lys) Maternal (confirmed) - pathogenic (dominant) g.53201438C>T g.52807654C>T 1829G>A (E520K) - KRT4_000015 variant expression cloning shows cells with irregular appearance or short-spindled ship PubMed: Zhang 2009 - - Germline yes - - - - DNA SEQ - - WSN1 FamPatII1 PubMed: Zhang 2009 3-generation family, 4 affected (4F) F - China - - - - - 4 Johan den Dunnen
-/. - c.1346+15A>G r.(=) p.(=) Unknown - benign g.53201413T>C g.52807629T>C KRT4(NM_002272.4):c.1346+15A>G - KRT4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*269A>G r.(?) p.(=) Maternal (confirmed) - likely benign g.53200584T>C g.52806800T>C 2324A>G - KRT4_000016 - PubMed: Zhang 2009 - - Germline - - - - - DNA SEQ - - WSN1 FamPatII1 PubMed: Zhang 2009 3-generation family, 4 affected (4F) F - China - - - - - 4 Johan den Dunnen
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