Full data view for gene KRT5

Information The variants shown are described using the NM_000424.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.30G>A likely benign r.(=) p.(=) Unknown g.52914051C>T - KRT5:c.30G>A (=) - KRT5_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.74C>T pathogenic r.(?) p.(Pro25Leu) Unknown g.52914007G>A - KRT5:c.74C>T (P25L) - KRT5_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.110G>A - r.(?) p.(Arg37Gln) Both (homozygous) g.52913971C>T g.52520187C>T - - KRT5_000001 - PubMed: Prontera 2015, Journal: Prontera 2015 - rs61747181 Germline no - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - - SHORT - PubMed: Prontera 2015, Journal: Prontera 2015 5-generation family, 1 affected (SHORT syndrome), heterozygous carriers have short stature F yes Italy - - 0 - - 1 B. Augello
-/. - c.413G>A benign r.(?) p.(Gly138Glu) Unknown g.52913668C>T - KRT5:c.413G>A (G138E) - KRT5_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.572A>C pathogenic r.(?) p.(Gln191Pro) Unknown g.52912928T>G - KRT5:c.572A>C (Q191P) - KRT5_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.579C>A pathogenic r.(?) p.(Asn193Lys) Unknown g.52912921G>T - KRT5:c.579C>A (N193K) - KRT5_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.596A>T pathogenic r.(?) p.(Lys199Met) Unknown g.52912904T>A - KRT5:c.596A>T (K199M) - KRT5_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1263G>A likely benign r.(=) p.(=) Unknown g.52910597C>T - KRT5:c.1263G>A (=) - KRT5_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1649del pathogenic r.(?) p.(Gly550Alafs*77) Unknown g.52908850del - KRT5:c.1649delG (G550Afs*77) - KRT5_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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