SVEP1 I1157V - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

SVEP1 I1157V

(SVEP1 Ile1157Val)


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 @ chr9:113221247: 18.3% (1783/9724) in EVS
  • C @ chr9:112261067: 21.1% (27/128) in GET-Evidence
  • Frequency shown in summary reports: 18.3% (1783/9724)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr9:113221247

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr9:113221247

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr9:113221247

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr9:113221247

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr9:113221247

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr9:113221247

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr9:113221247

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr9:113221247

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr9:113221247

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr9:113221247

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr9:112261068

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr9:112261068

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr9:112261068

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr9:112261068

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr9:112261068

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr9:112261068

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr9:112261068

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr9:112261068

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr9:112261068

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr9:112261068

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr9:112261068

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr9:112261068

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr9:112261068

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr9:112261068

 

Other external references
 

    dbSNP
  • rs7038903
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.907 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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