NR_027336 V73F - 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.

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NR_027336 V73F

(NR_027336 Val73Phe)

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 A @ chr16:90110289


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom A @ chr16:90110289


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom A @ chr16:90110289


hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr16:90110289


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr16:90110289


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr16:90110289


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr16:90110289



hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr16:90110289


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr16:90110289


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom A @ chr16:90110289


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr16:90110289


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr16:90110289


huC30901 - CGI sample GS00253-DNA_B01_200_37
hom A @ chr16:90110289


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr16:90110289


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr16:90110289


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom A @ chr16:90110289


Other external references

  • rs1048148

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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