PKD1 A3512V - GET-Evidence

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

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PKD1 A3512V

(PKD1 Ala3512Val)

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 @ chr16:2144176: 9.5% (1021/10738) in EVS
  • A @ chr16:2084176: 12.5% (16/128) in GET-Evidence
  • Frequency shown in summary reports: 9.5% (1021/10738)




hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr16:2144176




hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr16:2144176


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr16:2144176



hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr16:2144176


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr16:2144176


GS18501 - var-GS18501-1100-36-ASM
het A @ chr16:2084177


GS19129 - var-GS19129-1100-36-ASM
het A @ chr16:2084177


GS19239 - var-GS19239-1100-36-ASM
het A @ chr16:2084177


GS19240 - var-GS19240-1100-36-ASM
het A @ chr16:2084177


GS19648 - var-GS19648-1100-36-ASM
het A @ chr16:2084177


GS19700 - var-GS19700-1100-36-ASM
hom A @ chr16:2084177


GS19701 - var-GS19701-1100-36-ASM
het A @ chr16:2084177


GS20509 - var-GS20509-1100-36-ASM
het A @ chr16:2084177


GS21767 - var-GS21767-1100-36-ASM
het A @ chr16:2084177


Other external references

  • rs34197769
  • GeneTests records for the PKD1 gene
    Polycystic Kidney Disease 1, Autosomal Dominant
    Polycystic Kidney Disease, Autosomal Dominant
  • Score: 0.001 (benign)
    Web search results (2 hits -- see all)
  • BMC Medical Genetics
    The disease is caused by mutations of the PKD1 (affecting roughly 85% of ... Conclusion: Twenty probable mutations of the PKD1 gene in 90 Czech individuals (fifteen ...
  • New mutations in the PKD1 gene in Czech population with ...
    Mutation analysis of the PKD1 gene is complicated by the presence of ... Twenty probable mutations of the PKD1 gene in 90 Czech individuals (fifteen new ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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