NM_001080841 V80A - 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:

NM_001080841 V80A

(NM_001080841 Val80Ala)


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 @ chr15:19915303: 21.9% (25/114) in GET-Evidence
  • Frequency shown in summary reports: 21.9% (25/114)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr15:22413940

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr15:22413940

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr15:22413940

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr15:22413940

 

 

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr15:22413940

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr15:22413940

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr15:22413940

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr15:22413940

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr15:22413940

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr15:22413940

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr15:22413940

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr15:22413940

 

huE80E3D

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr15:22413940

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr15:22413940

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr15:19915304

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr15:19915304

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr15:19915304

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr15:19915304

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr15:19915304

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr15:19915304

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr15:19915304

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr15:19915304

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr15:19915304

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr15:19915304

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr15:19915304

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr15:19915304

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr15:19915304

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr15:19915304

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr15:19915304

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr15:19915304

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr15:19915304

 

Other external references
 

    dbSNP
  • rs7167256
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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