CELSR1 I2107V - 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:

CELSR1 I2107V

(CELSR1 Ile2107Val)


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 @ chr22:46786315: 32.8% (3531/10756) in EVS
  • C @ chr22:45164978: 34.4% (44/128) in GET-Evidence
  • Frequency shown in summary reports: 32.8% (3531/10756)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr22:46786315

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr22:46786315

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr22:46786315

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr22:46786315

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr22:46786315

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr22:46786315

 

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr22:46786315

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr22:46786315

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr22:46786315

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr22:46786315

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr22:46786315

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr22:46786315

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr22:46786315

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr22:46786315

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr22:46786315

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr22:46786315

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr22:45164979

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr22:45164979

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr22:45164979

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr22:45164979

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr22:45164979

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr22:45164979

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr22:45164979

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr22:45164979

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr22:45164979

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr22:45164979

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr22:45164979

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr22:45164979

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr22:45164979

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr22:45164979

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr22:45164979

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr22:45164979

 

GS19238 - var-GS19238-1100-36-ASM
hom C @ chr22:45164979

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr22:45164979

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr22:45164979

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr22:45164979

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr22:45164979

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr22:45164979

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr22:45164979

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr22:45164979

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr22:45164979

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr22:45164979

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr22:45164979

 

Other external references
 

    dbSNP
  • rs4044210
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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