RGPD4 T1410R - 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:

RGPD4 T1410R

(RGPD4 Thr1410Arg)


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

  • None available.

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr2:108488689

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr2:108488689

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr2:108488689

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het G @ chr2:108488689

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr2:108488689

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr2:108488689

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr2:108488689

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr2:108488689

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr2:108488689

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr2:108488689

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr2:108488689

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr2:108488689

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr2:108488689

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr2:108488689

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr2:108488689

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr2:108488689

 

Other external references
 

    dbSNP
  • rs2699562
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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