Full data view for gene KRT86

Information The variants shown are described using the NM_002284.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.-15557G>A r.(?) p.(=) Unknown - likely benign g.52680144G>A - KRT81(NM_002281.3):c.1413C>T (p.C471=) - KRT81_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-15109A>G r.(?) p.(=) 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.-14790G>A r.(?) p.(=) 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.-14772C>G r.(?) p.(=) Unknown - VUS g.52680929C>G - KRT81(NM_002281.4):c.1204G>C (p.E402Q) - KRT81_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-14645C>T r.(?) p.(=) 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.-14621G>A r.(?) p.(=) 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.-13879A>T r.(?) p.(=) 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.-13879A>T r.(?) p.(=) 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.-13867A>G r.(?) p.(=) 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.-13833C>T r.(?) p.(=) 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.-13776A>C r.(?) p.(=) 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.-13561C>T r.(?) p.(=) Unknown - VUS g.52682140C>T - KRT81(NM_002281.4):c.735+5G>A - KRT81_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-10605C>G r.(?) p.(=) 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.164G>A r.(?) p.(Arg55Gln) 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.197G>A r.(?) p.(Arg66His) 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.197G>A r.(?) p.(Arg66His) Unknown - benign g.52695897G>A g.52302113G>A - - KRT86_000005 - PubMed: van Steensel 2005 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: van Steensel 2005 controls - - - - - - - - 1 Johan den Dunnen
+/. - c.340A>C r.(?) p.(Asn114His) Unknown - pathogenic (dominant) g.52696040A>C g.52302256A>C N114H - KRT86_000006 - PubMed: Korge 1999 - - Germline - - - - - DNA SEQ - - MNLIX FamD PubMed: Korge 1999 family, 5 affected - - Scotland - - - - - 5 Johan den Dunnen
+/. - c.340A>G r.(?) p.(Asn114Asp) Parent #1 - pathogenic (dominant) g.52696040A>G g.52302256A>G N114D - KRT86_000007 - PubMed: Korge 1999 - - Germline - - - - - DNA SEQ - - MNLIX FamM9 PubMed: Korge 1999 family, 1 affected - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.340A>G r.(?) p.(Asn114Asp) Parent #1 - pathogenic (dominant) g.52696040A>G g.52302256A>G - - KRT86_000007 - PubMed: Winter 1999 - - Germline yes - - - - DNA SEQ - - MNLIX Fam2 PubMed: Winter 1999 3-generation family, 8 affected (2F, 6M) F;M - Sweden - - - - - 8 Johan den Dunnen
-/. - c.348G>A r.(?) p.(Arg116=) Unknown - benign g.52696048G>A g.52302264G>A - - KRT86_000008 - PubMed: van Steensel 2005 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: van Steensel 2005 controls - - - - - - - - 1 Johan den Dunnen
+/. - c.353C>A r.(?) p.(Ala118Glu) Parent #1 - pathogenic (dominant) g.52696053C>A g.52302269C>A - - KRT86_000009 - PubMed: Winter 2000 - - Germline yes - - - - DNA SEQ - - MNLIX family PubMed: Winter 2000 3-generation family, 7 affected (F, 6M) F;M - France - - - - - 7 Johan den Dunnen
-/. - c.415C>A r.(?) p.(Gln139Lys) 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.416A>C r.(?) p.(Gln139Pro) Unknown - benign g.52696930A>C g.52303146A>C - - KRT86_000010 - PubMed: van Steensel 2005 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: van Steensel 2005 controls - - - - - - - - 1 Johan den Dunnen
-?/. - c.487C>T r.(?) p.(Arg163Trp) 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.1002T>C r.(?) p.(Ala334=) 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.1204G>A r.(?) p.(Glu402Lys) Unknown - pathogenic g.52700021G>A g.52306237G>A - - KRT86_000001 - PubMed: van Steensel 2005 - - Germline - - - - - DNA SEQ - - MNLIX - PubMed: van Steensel 2005 patient F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1204G>A r.(?) p.(Glu402Lys) Unknown - pathogenic (dominant) g.52700021G>A g.52306237G>A - - KRT86_000001 - PubMed: Horev 2003 - - De novo - - - - - DNA SEQ - - MNLIX FamBPatII2 PubMed: Horev 2003 2-generation family, 1 affected, unaffected non-carrier parents - - Israel - - - - - 1 Johan den Dunnen
+/. - c.1204G>A r.(?) p.(Glu402Lys) Unknown - pathogenic (dominant) g.52700021G>A g.52306237G>A - - KRT86_000001 - PubMed: Winter 1999 - - De novo - - - - - DNA SEQ - - MNLIX patient PubMed: Winter 1999 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.1204G>A r.(?) p.(Glu402Lys) Maternal (confirmed) - pathogenic (dominant) g.52700021G>A g.52306237G>A - - KRT86_000001 - PubMed: Feng 2008 - - Germline yes - - - - DNA SEQ - - MNLIX family PubMed: Feng 2008 2-generation family, affected mother/daughter F - China Han - - - - 2 Johan den Dunnen
+/. - c.1204G>A r.(?) p.(Glu402Lys) Maternal (confirmed) - pathogenic (dominant) g.52700021G>A g.52306237G>A - - KRT86_000001 - PubMed: Djabali 2003 - - Germline yes - - - - DNA SEQ - - MNLIX Fam1 PubMed: Djabali 2003 3-generation family, 3 affected (2F, M) F;M - Russia - - - - - 3 Johan den Dunnen
+/. - c.1204G>A r.(?) p.(Glu402Lys) Unknown - pathogenic (dominant) g.52700021G>C g.52306237G>C - - KRT86_000002 - PubMed: Pearce 1999 - - De novo - - - - - DNA SEQ - - MNLIX PatA PubMed: Pearce 1999 - M - Wales - - - - - 1 Johan den Dunnen
+/. - c.1204G>A r.(?) p.(Glu402Lys) Parent #1 - pathogenic (dominant) g.52700021G>A g.52306237G>A - - KRT86_000001 - PubMed: Horev 2000 - - Germline yes - - - - DNA SEQ - - MNLIX Fam5 PubMed: Horev 2000 3-generation family, 9 affected (3F, 6M) F;M - Israel jew-Ashkenazi - - - - 9 Johan den Dunnen
+/. - c.1204G>A r.(?) p.(Glu402Lys) Parent #1 - pathogenic (dominant) g.52700021G>A g.52306237G>A - - KRT86_000001 - PubMed: Horev 2000 - - Germline yes - - - - DNA SEQ - - MNLIX Fam6 PubMed: Horev 2000 4-generation family, 3 affected (3F) F - Israel jew-Ashkenazi - - - - 3 Johan den Dunnen
+/. - c.1204G>C r.(?) p.(Glu402Gln) Unknown - pathogenic (dominant) g.52700021G>A g.52306237G>A - - KRT86_000001 - PubMed: Pearce 1999 - - De novo - - - - - DNA SEQ - - MNLIX PatB PubMed: Pearce 1999 - F - Greece - - - - - 1 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A - - KRT86_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.1237G>A r.(?) p.(Glu413Lys) Maternal (confirmed) - pathogenic (dominant) g.52700054G>A g.52306270G>A - - KRT86_000003 - 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.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A E413K - KRT86_000003 - PubMed: Korge 1998, PubMed: Korge 1999 - - Germline - - - - - DNA SEQ - - MNLIX FamS PubMed: Korge 1998, PubMed: Korge 1999 family, 17 affected - - Scotland - - - - - 17 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A E413K - KRT86_000003 - PubMed: Korge 1998, PubMed: Korge 1999 - - Germline - - - - - DNA SEQ - - MNLIX FamO PubMed: Korge 1998, PubMed: Korge 1999 family, 9 affected - - Ireland - - - - - 9 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A E413K - KRT86_000003 - PubMed: Korge 1998, PubMed: Korge 1999 - - Germline - - - - - DNA SEQ - - MNLIX FamK PubMed: Korge 1998, PubMed: Korge 1999 family, 11 affected - - England - - - - - 11 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A E413K - KRT86_000003 - PubMed: Korge 1998, PubMed: Korge 1999 - - De novo - - - - - DNA SEQ - - MNLIX FamM1 PubMed: Korge 1998, PubMed: Korge 1999 2-generation family, 1 affected, unaffected non-carrier parents - - Germany - - - - - 1 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A E413K - KRT86_000003 - PubMed: Korge 1998, PubMed: Korge 1999 - - Germline - - - - - DNA SEQ - - MNLIX FamM4 PubMed: Korge 1998, PubMed: Korge 1999 family, 5 affected - - Germany - - - - - 5 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Unknown - pathogenic g.52700054G>A g.52306270G>A E413K - KRT86_000003 - PubMed: Korge 1999 - - Germline - - - - - DNA SEQ - - MNLIX FamM10 PubMed: Korge 1999 family, 6 affected - - Scotland - - - - - 6 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Unknown - pathogenic g.52700054G>A g.52306270G>A E413K - KRT86_000003 - PubMed: Korge 1999 - - Germline - - - - - DNA SEQ - - MNLIX FamM12 PubMed: Korge 1999 family, 6 affected - - Germany - - - - - 6 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A Glu410Lys - KRT86_000003 - PubMed: Winter 1997 - - Germline - - - - - DNA SEQ - - MNLIX Fam1 PubMed: Winter 1997 4-generation family, 12 affected (7F, 5M) - - United Kingdom (Great Britain) - - - - - 12 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A E410K - KRT86_000003 - PubMed: Korge 1999 - - Germline - - - - - DNA SEQ - - MNLIX - PubMed: Korge 1999 family - - - - - - - - 1 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A E410K - KRT86_000003 - PubMed: Korge 1999 - - Germline - - - - - DNA SEQ - - MNLIX - PubMed: Korge 1999 family - - - - - - - - 1 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A E410K - KRT86_000003 - PubMed: Korge 1999 - - Germline - - - - - DNA SEQ - - MNLIX - PubMed: Korge 1999 family - - - - - - - - 1 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A E410K - KRT86_000003 - PubMed: Korge 1999 - - Germline - - - - - DNA SEQ - - MNLIX - PubMed: Korge 1999 family - - - - - - - - 1 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Unknown - pathogenic (dominant) g.52700054G>A g.52306270G>A E410K - KRT86_000003 - PubMed: Korge 1999 - - Germline/De novo (untested) - - - - - DNA SEQ - - MNLIX - PubMed: Korge 1999 patient - - - - - - - - 1 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A E410K - KRT86_000003 - PubMed: Winter 1997 - - Germline - - - - - DNA SEQ - - MNLIX Fam1 PubMed: Winter 1997 4-generation family, 10 affected (7F, 3M) - - Germany - - - - - 10 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Paternal (confirmed) - pathogenic (dominant) g.52700054G>A g.52306270G>A - - KRT86_000003 - PubMed: Djabali 2003 - - Germline yes - - - - DNA SEQ - - MNLIX Fam2 PubMed: Djabali 2003 3-generation family, 4 affected (F, 3M) F;M - Colombia - - - - - 4 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A - - KRT86_000003 - PubMed: Horev 2000 - - Germline yes - - - - DNA SEQ - - MNLIX Fam3 PubMed: Horev 2000 2-generation family, 3 affected (F, 2M) F;M - Israel jew-Ashkenazi - - - - 3 Johan den Dunnen
+/. - c.1237G>A r.(?) p.(Glu413Lys) Parent #1 - pathogenic (dominant) g.52700054G>A g.52306270G>A - - KRT86_000003 - PubMed: Horev 2000 - - Germline yes - - - - DNA SEQ - - MNLIX Fam4 PubMed: Horev 2000 4-generation family, 20 affected (5F, 15M) F;M - Israel jew-Ashkenazi - - - - 20 Johan den Dunnen
+/. - c.1239G>T r.(?) p.(Glu413Asp) Unknown - pathogenic g.52700056G>T - KRT86(NM_001320198.2):c.1239G>T (p.E413D) - KRT86_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1239G>T r.(?) p.(Glu413Asp) Parent #1 - pathogenic (dominant) g.52700056G>T g.52306272G>T Glu410Asp - KRT86_000004 - PubMed: Winter 1997 - - Germline - - - - - DNA SEQ - - MNLIX Fam2 PubMed: Winter 1997 3-generation family, 5 affected (F, 4M) - - France - - - - - 5 Johan den Dunnen
+/. - c.1239G>T r.(?) p.(Glu413Asp) Parent #1 - pathogenic (dominant) g.52700056G>T g.52306272G>T - - KRT86_000004 - PubMed: Oetting 1999 - - Germline yes - - - - DNA SEQ - - MNLIX patient PubMed: Oetting 1999 3-generation family, 23 affected (10F, 13M) F;M - Israel Palestine - - - - 23 Johan den Dunnen
+/. - c.1239G>T r.(?) p.(Glu413Asp) Parent #1 - pathogenic (dominant) g.52700056G>T g.52306272G>T E410D - KRT86_000004 - PubMed: Zlotogorski 1998 - - Germline yes - - - - DNA SEQ - - MNLIX Family PubMed: Zlotogorski 1998 4-generation family, 31 affected (12F, 16M), incl. 3 homozygous cases (F, 2M) F;M - Israel Arab - - - - 31 Johan den Dunnen
+/. - c.1239G>T r.(?) p.(Glu413Asp) Both (homozygous) - pathogenic (dominant) g.52700056G>T g.52306272G>T E410D - KRT86_000004 - PubMed: Zlotogorski 1998 - - Germline yes - - - - DNA SEQ - - MNLIX FamPatII14/17/20 PubMed: Zlotogorski 1998 3 homozygous cases F;M - Israel Arab - - - - 3 Johan den Dunnen
+/. - c.1239G>T r.(?) p.(Glu413Asp) Parent #1 - pathogenic (dominant) g.52700056G>T g.52306272G>T - - KRT86_000004 - PubMed: Horev 2000 - - Germline yes - - - - DNA SEQ - - MNLIX Fam1 PubMed: Horev 2000 3-generation family, 22 affected (10F, 11M) F;M - Israel Arab - - - - 22 Johan den Dunnen
+/. - c.1239G>T r.(?) p.(Glu413Asp) Parent #1 - pathogenic (dominant) g.52700056G>T g.52306272G>T - - KRT86_000004 - PubMed: Horev 2000 - - Germline yes - - - - DNA SEQ - - MNLIX Fam2 PubMed: Horev 2000 2-generation family, 6 affected (2F, 4M) F;M - Israel Arab - - - - 6 Johan den Dunnen
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