ADAMTSL3 H146R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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ADAMTSL3 H146R

(ADAMTSL3 His146Arg)


You are viewing an old version of this page that was saved on November 29, 2012 at 7:18am by Genome Importing Robot.

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

  • G @ chr15:84488636: 56.4% (6072/10758) in EVS
  • G @ chr15:82279639: 70.3% (83/118) in GET-Evidence
  • Frequency shown in summary reports: 56.4% (6072/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr15:84488636

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom G @ chr15:84488636

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr15:84488636

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr15:84488636

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr15:84488636

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr15:84488636

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chr15:84488636

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr15:84488636

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr15:84488636

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr15:84488636

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr15:84488636

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr15:84488636

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom G @ chr15:84488636

 

Added in this revision:

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom G @ chr15:84488636

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr15:84488636

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr15:84488636

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr15:84488636

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr15:84488636

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr15:84488636

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom G @ chr15:84488636

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr15:84488636

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr15:84488636

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom G @ chr15:84488636

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom G @ chr15:84488636

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom G @ chr15:84488636

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr15:84488636

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr15:82279640

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr15:82279640

 

GS10851 - var-GS10851-1100-36-ASM
hom G @ chr15:82279640

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr15:82279640

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr15:82279640

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr15:82279640

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr15:82279640

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr15:82279640

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr15:82279640

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr15:82279640

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr15:82279640

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr15:82279640

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr15:82279640

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr15:82279640

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr15:82279640

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr15:82279640

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr15:82279640

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr15:82279640

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr15:82279640

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr15:82279640

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr15:82279640

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr15:82279640

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr15:82279640

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr15:82279640

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr15:82279640

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr15:82279640

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr15:82279640

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chr15:82279640

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr15:82279640

 

GS19704 - var-GS19704-1100-36-ASM
hom G @ chr15:82279640

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr15:82279640

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr15:82279640

 

GS20502 - var-GS20502-1100-36-ASM
hom G @ chr15:82279640

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr15:82279640

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr15:82279640

 

Other external references
 

    dbSNP
  • rs4483821
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.04 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

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