ASPM L2647I - 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:

ASPM L2647I

(ASPM Leu2647Ile)


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

  • T @ chr1:197070442: 32.0% (3438/10750) in EVS
  • T @ chr1:195337064: 25.0% (32/128) in GET-Evidence
  • Frequency shown in summary reports: 32.0% (3438/10750)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr1:197070442

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr1:197070442

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr1:197070442

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom T @ chr1:197070442

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr1:197070442

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr1:197070442

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr1:197070442

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom T @ chr1:197070442

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr1:197070442

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom T @ chr1:197070442

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr1:197070442

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom T @ chr1:197070442

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom T @ chr1:197070442

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr1:197070442

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom T @ chr1:197070442

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr1:197070442

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr1:197070442

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom T @ chr1:197070442

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr1:195337065

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr1:195337065

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr1:195337065

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr1:195337065

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr1:195337065

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr1:195337065

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr1:195337065

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr1:195337065

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr1:195337065

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr1:195337065

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr1:195337065

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr1:195337065

 

Other external references
 

    dbSNP
  • rs3762271
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the ASPM gene
    Primary Autosomal Recessive Microcephaly
    Primary Autosomal Recessive Microcephaly Type 5
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ASPM
    Web search results (1 hit -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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