Full data view for gene KRTAP5-7

Information The variants shown are described using the NM_001012503.1 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.23A>G likely benign r.(?) p.(Glu8Gly) Unknown g.71238369A>G - KRTAP5-7(NM_001012503.1):c.23A>G (p.(Glu8Gly)) - KRTAP5-7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.195_224del likely benign r.(?) p.(Gly82_Gly91del) Unknown g.71238541_71238570del - KRTAP5-7(NM_001012503.1):c.167_196del (p.(Gly82_Gly91del)) - KRTAP5-7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330_331insCTGCTGCCAGTCCAGCTGCTGTAAGCCCTG likely benign r.(?) p.(Cys111_Ile165delinsLeuLeuProValGlnLeuLeu) Unknown g.71238676_71238677insCTGCTGCCAGTCCAGCTGCTGTAAGCCCTG - KRTAP5-7(NM_001012503.1):c.329_330insCTGCTGCCAGTCCAGCTGCTGTAAGCCCTG (p.(Gln123_Cys132dup)) - KRTAP5-7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330_331insCTGCTGCCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCCAGTCCAGCTGCTGTAAGCCCTG likely benign r.(?) p.(Cys111_Ile165delinsLeuLeuProValGlnLeuLeu) Unknown g.71238676_71238677insCTGCTGCCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCCAGTCCAGCTGCTGTAAGCCCTG - KRTAP5-7(NM_001012503.1):c.329_330insCTGCTGCCAGTCCAGCTGCTGTAAGCCCTGCTGCTGCCAGTCCAGCTGCTGTAAGCCCTG (p.(Gln113_Cys132dup)) - KRTAP5-7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.396_422del likely benign r.(?) p.(Ser133_Cys141del) Unknown g.71238742_71238768del - KRTAP5-7(NM_001012503.1):c.390_416del (p.(Ser133_Cys141del)) - KRTAP5-7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.441T>G likely benign r.(?) p.(Asn147Lys) Unknown g.71238787T>G - KRTAP5-7(NM_001012503.1):c.441T>G (p.(Asn147Lys)) - KRTAP5-7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend