FAM187B V216I - 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:

FAM187B V216I

(FAM187B Val216Ile)


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 @ chr19:35718938: 21.8% (2340/10758) in EVS
  • T @ chr19:40410777: 17.2% (22/128) in GET-Evidence
  • Frequency shown in summary reports: 21.8% (2340/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr19:35718938

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr19:35718938

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr19:35718938

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr19:35718938

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr19:35718938

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr19:35718938

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr19:35718938

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom T @ chr19:35718938

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr19:35718938

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr19:35718938

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr19:35718938

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr19:35718938

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr19:35718938

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr19:35718938

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr19:35718938

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr19:35718938

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom T @ chr19:35718938

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr19:40410778

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr19:40410778

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr19:40410778

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chr19:40410778

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr19:40410778

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr19:40410778

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr19:40410778

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr19:40410778

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr19:40410778

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr19:40410778

 

Other external references
 

    dbSNP
  • rs564117
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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