KRTAP7-1 I61S - 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!



(KRTAP7-1 Ile61Ser)

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

  • None available.



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr21:32201835


hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom C @ chr21:32201835


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom C @ chr21:32201835


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr21:32201835


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr21:32201835


hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr21:32201835


hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het C @ chr21:32201835


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom C @ chr21:32201835


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr21:32201835


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom C @ chr21:32201835


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr21:32201835


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr21:32201835


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr21:32201835


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr21:32201835


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom C @ chr21:32201835


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr21:32201835


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr21:32201835


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr21:32201835


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr21:32201835


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom C @ chr21:32201835


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr21:32201835


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr21:32201835


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chr21:32201835


Other external references

  • rs9982675

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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