Transcript #00010762

Transcript name keratin 5
Gene name KRT5 (keratin 5)
Chromosome 12
Transcript - NCBI ID NM_000424.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000415.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

9 entries on 1 page. Showing entries 1 - 9.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.30G>A likely benign r.(=) p.(=)
+/. - c.74C>T pathogenic r.(?) p.(Pro25Leu)
-?/. - c.110G>A - r.(?) p.(Arg37Gln)
-/. - c.413G>A benign r.(?) p.(Gly138Glu)
+/. - c.572A>C pathogenic r.(?) p.(Gln191Pro)
+/. - c.579C>A pathogenic r.(?) p.(Asn193Lys)
+/. - c.596A>T pathogenic r.(?) p.(Lys199Met)
-?/. - c.1263G>A likely benign r.(=) p.(=)
+/. - c.1649del pathogenic r.(?) p.(Gly550Alafs*77)
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