NM_001037335 S338L - GET-Evidence

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

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NM_001037335 S338L

(NM_001037335 Ser338Leu)

You are viewing an old version of this page that was saved on November 29, 2012 at 5:01am by Genome Importing Robot.

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

  • A @ chr20:62200576: 13.8% (1479/10752) in EVS
  • CA @ chr20:61671018: 19.2% (20/104) in GET-Evidence
  • Frequency shown in summary reports: 13.8% (1479/10752)



hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het CA @ chr20:62200575


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het CA @ chr20:62200575


hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het CA @ chr20:62200575


hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het CA @ chr20:62200575


Added in this revision:

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het CA @ chr20:62200575


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het CA @ chr20:62200575


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het CA @ chr20:62200575



huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het CA @ chr20:62200575


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het CA @ chr20:62200575


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het CA @ chr20:62200575


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom CA @ chr20:62200575


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het CA @ chr20:62200575


GS06994 - var-GS06994-1100-36-ASM
hom CA @ chr20:61671019


GS10851 - var-GS10851-1100-36-ASM
hom CA @ chr20:61671019


GS18940 - var-GS18940-1100-36-ASM
hom CA @ chr20:61671019


GS18942 - var-GS18942-1100-36-ASM
hom CA @ chr20:61671019


GS18947 - var-GS18947-1100-36-ASM
hom CA @ chr20:61671019


GS20509 - var-GS20509-1100-36-ASM
hom CA @ chr20:61671019


Other external references

  • rs1741594
  • Score: 0.889 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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