Full data view for gene KRT16

Information The variants shown are described using the NM_005557.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.60C>T likely benign r.(=) p.(=) Unknown g.39768881G>A - KRT16:c.60C>T (=) - KRT16_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.207C>A likely benign r.(=) p.(=) Unknown g.39768734G>T - KRT16:c.207C>A (=) - KRT16_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.216_217insCAG VUS r.(?) p.(Phe72_Ser73insGln) Unknown g.39768724_39768725insCTG - KRT16:c.227_229dupAGC (S77dup) - KRT16_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 2i c.614+55C>T - r.(?) p.(=) Both (homozygous) g.39767836G>A g.41611584G>A - - KRT16_000001 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.624T>C benign r.(=) p.(=) Unknown g.39767744A>G - KRT16:c.624T>C (=) - KRT16_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 6 c.1223C>T - r.(?) p.(Thr408Met) Both (homozygous) g.39766640G>A g.41610388G>A - - KRT16_000002 not associated with disease phenotype PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline - - - 0 - DNA arraySNP, SEQ, SEQ-NG - - EPM-6 - PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F yes Australia - 32y 0 - - 1 Johan den Dunnen
-/. - c.1281-16T>C benign r.(=) p.(=) Unknown g.39766504A>G - KRT16:c.1281-16T>C - KRT16_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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