TMEM43 K168N - 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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TMEM43 K168N

(TMEM43 Lys168Asn)

Short summary


Variant evidence
Computational 1

Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism p value: 0.321352; protein features (might be) affected (Detail: aa 53-313 TOPO_DOMAIN Lumenal (potential) gets lost).
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 93.88; Class C65
Multi-alignment of Q9BTV4.1 transmembrane protein 43 [Homo sapiens] with: XP_003265059.1 [Nomascus leucogenys] XP_001157301.1 [Pan troglodytes] NP_001125873.1 [Pongo abelii] XP_001091243.1 [Macaca mulatta] XP_002758731.1 [Callithrix jacchus] XP_002920733.1 [Ailuropoda melanoleuca] XP_541751.2 [Canis familiaris] EFB19918.1 [Ailuropoda melanoleuca] XP_001489843.2 [Equus caballus] XP_002713222.1 [Oryctolagus cuniculus]

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 @ chr3:14174427: 28.7% (3087/10758) in EVS
  • T @ chr3:14149427: 25.0% (32/128) in GET-Evidence
  • Frequency shown in summary reports: 28.7% (3087/10758)















hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr3:14174427















GS07357 - var-GS07357-1100-36-ASM
het T @ chr3:14149428


GS12004 - var-GS12004-1100-36-ASM
het T @ chr3:14149428


GS18501 - var-GS18501-1100-36-ASM
het T @ chr3:14149428


GS18505 - var-GS18505-1100-36-ASM
het T @ chr3:14149428


GS18508 - var-GS18508-1100-36-ASM
het T @ chr3:14149428


GS18517 - var-GS18517-1100-36-ASM
het T @ chr3:14149428


GS18526 - var-GS18526-1100-36-ASM
het T @ chr3:14149428


GS18537 - var-GS18537-1100-36-ASM
het T @ chr3:14149428


GS18558 - var-GS18558-1100-36-ASM
het T @ chr3:14149428


GS18942 - var-GS18942-1100-36-ASM
hom T @ chr3:14149428


GS18956 - var-GS18956-1100-36-ASM
hom T @ chr3:14149428


GS19017 - var-GS19017-1100-36-ASM
het T @ chr3:14149428


GS19020 - var-GS19020-1100-36-ASM
het T @ chr3:14149428


GS19026 - var-GS19026-1100-36-ASM
het T @ chr3:14149428


GS19238 - var-GS19238-1100-36-ASM
het T @ chr3:14149428


GS19648 - var-GS19648-1100-36-ASM
het T @ chr3:14149428


GS19669 - var-GS19669-1100-36-ASM
het T @ chr3:14149428


GS19701 - var-GS19701-1100-36-ASM
het T @ chr3:14149428


GS19703 - var-GS19703-1100-36-ASM
het T @ chr3:14149428


GS19704 - var-GS19704-1100-36-ASM
het T @ chr3:14149428


GS19735 - var-GS19735-1100-36-ASM
het T @ chr3:14149428


GS20509 - var-GS20509-1100-36-ASM
hom T @ chr3:14149428


GS21767 - var-GS21767-1100-36-ASM
het T @ chr3:14149428




Other external references

  • rs4685076
  • GeneTests records for the TMEM43 gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5
  • Score: 0.064 (benign)
    Web search results (3 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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