Full data view for gene KRT81

Information The variants shown are described using the NM_002281.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-14807C>A r.(?) p.(=) Unknown - pathogenic g.52700056G>T - KRT86(NM_001320198.2):c.1239G>T (p.E413D) - KRT86_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14299A>G r.(?) p.(=) Unknown - benign g.52699548T>C g.52305764T>C KRT86(NM_001320198.2):c.1002T>C (p.A334=) - KRT86_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11752G>A r.(?) p.(=) Unknown - likely benign g.52697001C>T - KRT86(NM_001320198.2):c.487C>T (p.(Arg163Trp)) - KRT81_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-11680G>T r.(?) p.(=) Unknown - benign g.52696929C>A g.52303145C>A KRT86(NM_001320198.1):c.415C>A (p.Q139K) - KRT86_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10648C>T r.(?) p.(=) Unknown - VUS g.52695897G>A g.52302113G>A KRT86(NM_002284.3):c.197G>A (p.(Arg66His)) - KRT86_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10615C>T r.(?) p.(=) Unknown - likely benign g.52695864G>A - KRT86(NM_001320198.2):c.164G>A (p.R55Q) - KRT81_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154G>C r.(?) p.(Gly52Arg) Unknown - benign g.52685096C>G g.52291312C>G KRT81(NM_002281.4):c.154G>C (p.G52R) - KRT81_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.416A>C r.(?) p.(Gln139Pro) Unknown - benign g.52684024T>G g.52290240T>G - - KRT81_000015 - PubMed: van Steensel 2005 - - Germline - 0.17 - - - DNA SEQ - - Healthy/Control - PubMed: van Steensel 2005 controls - - - - - - - - 1 Johan den Dunnen
-/. - c.735+4C>T r.(?) p.(=) Unknown - benign g.52682141G>A g.52288357G>A IVS4+4C>T - KRT81_000006 - PubMed: van Steensel 2005 - - Germline - 0.24 - - - DNA SEQ - - Healthy/Control - PubMed: van Steensel 2005 controls - - - - - - - - 1 Johan den Dunnen
?/. - c.735+5G>A r.spl? p.? Unknown - VUS g.52682140C>T - KRT81(NM_002281.4):c.735+5G>A - KRT81_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.743T>G r.(?) p.(Leu248Arg) Unknown - benign g.52681925A>C g.52288141A>C KRT81(NM_002281.4):c.743T>G (p.L248R) - KRT81_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.800G>A r.(?) p.(Arg267Gln) Unknown - VUS g.52681868C>T - KRT81(NM_002281.4):c.800G>A (p.R267Q), KRT86(NM_001320198.2):c.-5+12138C>T - KRT81_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.834T>C r.(?) p.(Ile278=) Unknown - likely benign g.52681834A>G g.52288050A>G KRT81(NM_002281.3):c.834T>C (p.I278=) - KRT81_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.846T>A r.(?) p.(Tyr282*) Unknown - likely benign g.52681822A>T - KRT81(NM_002281.3):c.846T>A (p.Y282*), KRT81(NM_002281.4):c.846T>A (p.(Tyr282Ter)) - KRT81_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.846T>A r.(?) p.(Tyr282*) Unknown - VUS g.52681822A>T - KRT81(NM_002281.3):c.846T>A (p.Y282*), KRT81(NM_002281.4):c.846T>A (p.(Tyr282Ter)) - KRT81_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1027-14dup r.(?) p.(=) Both (homozygous) - likely benign g.52681122dup g.52287338dup g.4421insT;4461T>C;4485A>G - KRT81_000001 c.1053=;1077= PubMed: Khandpur 2004 - - Germline - - - - - DNA SEQ, SSCA - - MNLIX Fam2 PubMed: Khandpur 2004 2-generation family, 6 affected (5F, M) - - India - - - - - 6 Johan den Dunnen
-?/. - c.1027-14dup r.(?) p.(=) Both (homozygous) - likely benign g.52681122dup g.52287338dup g.4421insT - KRT81_000001 - PubMed: Khandpur 2004 - - Germline - - - - - DNA SEQ, SSCA - - MNLIX Fam1PatII3 PubMed: Khandpur 2004 3-generation family, 10 affected (6F, 4M) M - India - - - - - 10 Johan den Dunnen
-/. - c.1053C>T r.(?) p.(Ala351=) Unknown - benign g.52681080G>A g.52287296G>A KRT81(NM_002281.4):c.1053C>T (p.A351=) - KRT81_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1053C>T r.(?) p.(Ala351=) Parent #1 - likely benign g.52681080G>A g.52287296G>A g.4421insT;4461T>C;4485A>G - KRT81_000002 - PubMed: Khandpur 2004 - - Germline - - - - - DNA SEQ, SSCA - - MNLIX Fam1PatII3 PubMed: Khandpur 2004 3-generation family, 10 affected (6F, 4M) M - India - - - - - 10 Johan den Dunnen
-/. - c.1077G>A r.(?) p.(Ala359=) Unknown - benign g.52681056C>T g.52287272C>T KRT81(NM_002281.4):c.1077G>A (p.A359=) - KRT81_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1077G>A r.(?) p.(Ala359=) Parent #1 - likely benign g.52681056C>T g.52287272C>T g.4421insT;4461T>C;4485A>G - KRT81_000003 - PubMed: Khandpur 2004 - - Germline - - - - - DNA SEQ, SSCA - - MNLIX Fam1PatII3 PubMed: Khandpur 2004 3-generation family, 10 affected (6F, 4M) M - India - - - - - 10 Johan den Dunnen
+/. - c.1204G>A r.(?) p.(Glu402Lys) Parent #1 - pathogenic g.52680929C>T g.52287145C>T - - KRT81_000004 unaffected carrier mother/brother with psoriasis PubMed: Winter 1998 - - Germline - - - - - DNA SEQ - - MNLIX family PubMed: Winter 1998 3-generation family, 1 affected F - France - - - - - 10 Johan den Dunnen
+/. - c.1204G>A r.(?) p.(Glu402Lys) Parent #1 - pathogenic (dominant) g.52680929C>T g.52287145C>T - - KRT81_000004 - PubMed: Korge 1999 - - Germline yes - - - - DNA SEQ - - MNLIX FamM2 PubMed: Korge 1999 family, 7 affected - - Germany - - - - - 7 Johan den Dunnen
+/. - c.1204G>A r.(?) p.(Glu402Lys) Parent #1 - pathogenic (dominant) g.52680929C>T g.52287145C>T - - KRT81_000004 - PubMed: Korge 1999 - - Germline yes - - - - DNA SEQ - - MNLIX FamM6 PubMed: Korge 1999 family, 4 affected - - Germany - - - - - 4 Johan den Dunnen
+/. - c.1204G>A r.(?) p.(Glu402Lys) Parent #1 - pathogenic (dominant) g.52680929C>T g.52287145C>T - - KRT81_000004 - PubMed: Korge 1999 - - Germline yes - - - - DNA SEQ - - MNLIX FamM8 PubMed: Korge 1999 family, 3 affected - - Northern Ireland - - - - - 3 Johan den Dunnen
+/. - c.1204G>A r.(?) p.(Glu402Lys) Parent #1 - pathogenic (dominant) g.52680929C>T g.52287145C>T - - KRT81_000004 - PubMed: Korge 1999 - - Germline yes - - - - DNA SEQ - - MNLIX FamM11 PubMed: Korge 1999 family, 7 affected - - Germany - - - - - 7 Johan den Dunnen
?/. - c.1204G>C r.(?) p.(Glu402Gln) Unknown - VUS g.52680929C>G - KRT81(NM_002281.4):c.1204G>C (p.E402Q) - KRT81_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1222C>T r.(?) p.(Arg408Cys) Unknown - likely benign g.52680911G>A - KRT81(NM_002281.4):c.1222C>T (p.(Arg408Cys)) - KRT81_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic g.52680896C>T g.52287112C>T - - KRT81_000005 variant present in clinically unremarkable paternal grandmother PubMed: Winter 1997 - - Germline yes - - - - DNA SEQ - - MNLIX Fam2 PubMed: Winter 1997 3-generation family, 2 affected (father/daughter) - - Canada - - - - - 2 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52680896C>T g.52287112C>T - - KRT81_000005 - PubMed: Korge 1999 - - Germline yes - - - - DNA SEQ - - MNLIX FamL PubMed: Korge 1999 family, 2 affected - - Scotland - - - - - 2 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Unknown - pathogenic (dominant) g.52680896C>T g.52287112C>T - - KRT81_000005 - PubMed: Horev 2003 - - De novo - - - - - DNA SEQ - - MNLIX FamAPatI3 PubMed: Horev 2003 2-generation family, 1 affected, unaffected non-carrier parents - - Israel - - - - - 1 Johan den Dunnen
-?/. - c.1262T>C r.(?) p.(Ile421Thr) Unknown - likely benign g.52680592A>G g.52286808A>G KRT81(NM_002281.3):c.1262T>C (p.I421T) - KRT81_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1413C>T r.(?) p.(Cys471=) Unknown - likely benign g.52680144G>A - KRT81(NM_002281.3):c.1413C>T (p.C471=) - KRT81_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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