ARHGAP9 S370A - 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.

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Curation:
Currentness:

(See the latest version)

ARHGAP9 S370A

(ARHGAP9 Ser370Ala)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm 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

  • C @ chr12:57870155: 48.7% (5243/10758) in EVS
  • C @ chr12:56156421: 40.7% (48/118) in GET-Evidence
  • Frequency shown in summary reports: 48.7% (5243/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr12:57870155

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr12:57870155

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr12:57870155

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr12:57870155

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr12:57870155

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr12:57870155

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom C @ chr12:57870155

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr12:56156422

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr12:56156422

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr12:56156422

 

GS10851 - var-GS10851-1100-36-ASM
hom C @ chr12:56156422

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr12:56156422

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr12:56156422

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr12:56156422

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr12:56156422

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr12:56156422

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr12:56156422

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr12:56156422

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr12:56156422

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr12:56156422

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr12:56156422

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr12:56156422

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr12:56156422

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr12:56156422

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr12:56156422

 

Added in this revision:

GS20502 - var-GS20502-1100-36-ASM
hom C @ chr12:56156422

 

NA07022

 

NA12878

 

NA18956

 

snp-1

 

snp-6

 

Other external references
 

    dbSNP
  • rs11544238
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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