RNF175 M159V - 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:

RNF175 M159V

(RNF175 Met159Val)


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

  • C @ chr4:154644537: 17.4% (1712/9852) in EVS
  • C @ chr4:154863986: 13.3% (17/128) in GET-Evidence
  • Frequency shown in summary reports: 17.4% (1712/9852)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr4:154644537

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr4:154644537

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom C @ chr4:154644537

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr4:154644537

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr4:154644537

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom C @ chr4:154644537

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr4:154644537

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr4:154644537

 

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr4:154644537

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr4:154863987

 

GS06994 - var-GS06994-1100-36-ASM
hom C @ chr4:154863987

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr4:154863987

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr4:154863987

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr4:154863987

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr4:154863987

 

Other external references
 

    dbSNP
  • rs10517577
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.395 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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