Full data view for gene KRT9

Information The variants shown are described using the NM_000226.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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     
+/. 1 c.482A>G r.(?) p.(Asn161Ser) Parent #1 - pathogenic g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Bonifas 1994 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G r.(?) p.(Asn161Ser) Parent #1 - pathogenic g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Amichai 2002 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G r.(?) p.(Asn161Ser) Parent #1 - pathogenic g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Tsunemi 2002 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G r.(?) p.(Asn161Ser) Parent #1 - pathogenic g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Lee 2003 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G r.(?) p.(Asn161Ser) Parent #1 - pathogenic g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Zhang 2004 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G r.(?) p.(Asn161Ser) Parent #1 - pathogenic g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Hamada 2005 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G r.(?) p.(Asn161Ser) Parent #1 - pathogenic g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Yin 2007 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
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