KRT5 G543S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!


KRT5 G543S

(KRT5 Gly543Ser)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr12:52908872: 15.2% (1630/10752) in EVS
  • T @ chr12:51195138: 7.1% (2/28) in GET-Evidence
  • Frequency shown in summary reports: 15.2% (1630/10752)



hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr12:52908872


hu34D5B9 - hu34D5B9 exome
het T @ chr12:52908872


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom T @ chr12:52908872


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr12:52908872


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr12:52908872


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr12:52908872


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr12:52908872


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr12:52908872


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom T @ chr12:52908872


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr12:52908872


Other external references

  • rs11549949
  • GeneTests records for the KRT5 gene
    Epidermolysis Bullosa Simplex
    Epidermolysis Bullosa Simplex with Mottled Pigmentation
    Epidermolysis Bullosa Simplex, Dowling-Meara Type
    Epidermolysis Bullosa Simplex, Koebner Type
    Epidermolysis Bullosa Simplex, Weber-Cockayne Type
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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