ALG9 V289I - 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:

ALG9 V289I

(ALG9 Val289Ile)


Short summary

 

Variant evidence
Computational 3

PolyPhen2: Probably damaging 0.994
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 28.68; Class C25

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 @ chr11:111724133: 26.3% (2557/9732) in EVS
  • T @ chr11:111229342: 28.1% (36/128) in GET-Evidence
  • Frequency shown in summary reports: 26.3% (2557/9732)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr11:111724133

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr11:111724133

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr11:111724133

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr11:111724133

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr11:111724133

 

 

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr11:111724133

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr11:111724133

 

 

hu728FFF - hu728FFF build 36 substitution variants
hom T @ chr11:111229343

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr11:111724133

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom T @ chr11:111724133

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr11:111724133

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom T @ chr11:111724133

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr11:111724133

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr11:111724133

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr11:111724133

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr11:111724133

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr11:111724133

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr11:111724133

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom T @ chr11:111724133

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr11:111229343

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr11:111229343

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr11:111229343

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr11:111229343

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr11:111229343

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr11:111229343

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr11:111229343

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr11:111229343

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr11:111229343

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr11:111229343

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr11:111229343

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr11:111229343

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr11:111229343

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr11:111229343

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr11:111229343

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr11:111229343

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr11:111229343

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr11:111229343

 

Other external references
 

    dbSNP
  • rs10502151
    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 = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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