DNAH14 N2435S - GET-Evidence

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

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DNAH14 N2435S

(DNAH14 Asn2435Ser)

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

  • G @ chr1:225452983: 5.3% (172/3232) in EVS
  • Frequency shown in summary reports: 5.3% (172/3232)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr1:225452983


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr1:225452983


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr1:225452983


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr1:225452983


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr1:225452983


Other external references

  • rs76767146

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 0

Edit history

Gene search

"GENE" or "GENE A123C":

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