PKD1L2 G129D - 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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Curation:
Currentness:

PKD1L2 G129D

(PKD1L2 Gly129Asp)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr16:81249927: 26.9% (2777/10308) in EVS
  • T @ chr16:79807427: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 26.9% (2777/10308)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr16:81249927

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr16:81249927

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr16:81249927

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr16:81249927

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr16:81249927

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr16:81249927

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr16:81249927

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr16:81249927

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr16:81249927

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr16:81249927

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr16:81249927

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr16:81249927

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr16:81249927

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom T @ chr16:81249927

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr16:81249927

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr16:81249927

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr16:81249927

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr16:81249927

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr16:81249927

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr16:79807428

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr16:79807428

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr16:79807428

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr16:79807428

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr16:79807428

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr16:79807428

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr16:79807428

 

Other external references
 

    dbSNP
  • rs7185774
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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