SAMD11 H78Y - 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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(SAMD11 His78Tyr)

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 @ chr1:865694: 0.8% (85/10728) in EVS
  • T @ chr1:855556: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (85/10728)




GS18504 - var-GS18504-1100-36-ASM
het T @ chr1:855557


GS18558 - var-GS18558-1100-36-ASM
het T @ chr1:855557


GS18940 - var-GS18940-1100-36-ASM
het T @ chr1:855557


Other external references

  • rs9988179
  • Score: 0.987 (probably damaging)
    Web search results (3 hits -- see all)
  • SAMD11 Gene - GeneCards | SAM11 Protein | SAM11 Antibody
    SAMD11 Gene in genomic location: bands according to Ensembl, locations according to (and ... SAMD11 for ontologies About GeneDecksing. Antibodies for SAMD11: ...
  • SuppTable06_nsSnp_AK1.csv
    ... 42.5,heterozygous,SAMD11,H,Y,rs9988179 chr1,867694,T,C,100,homozygous,SAMD11,W,R, ... 1640647,T,C,29.411766,heterozygous,CDC2L1,H,R,rs17845218 chr1,1640657,A,G,30. ...
  • Mooney Lab - MutDB
    SAMD11. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ... DBSNP:rs9988179. 77. H Y. NCBI. In dbsnp. None. Not scored. DBSNP:rs6672356 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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