GAA H199R - 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:

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GAA H199R

(GAA His199Arg)


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Short summary

 

Variant evidence
Computational 3

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: Class C0

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 @ chr17:78079597: 67.3% (7238/10758) in EVS
  • G @ chr17:75694191: 60.9% (78/128) in GET-Evidence
  • Frequency shown in summary reports: 67.3% (7238/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr17:78079597

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr17:78079597

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr17:78079597

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr17:78079597

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr17:78079597

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr17:78079597

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chr17:78079597

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr17:78079597

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr17:78079597

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr17:78079597

 

GS06985 - var-GS06985-1100-36-ASM
hom G @ chr17:75694192

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr17:75694192

 

GS07357 - var-GS07357-1100-36-ASM
hom G @ chr17:75694192

 

GS10851 - var-GS10851-1100-36-ASM
hom G @ chr17:75694192

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr17:75694192

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr17:75694192

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr17:75694192

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr17:75694192

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr17:75694192

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr17:75694192

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr17:75694192

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr17:75694192

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr17:75694192

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr17:75694192

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr17:75694192

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr17:75694192

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr17:75694192

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr17:75694192

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr17:75694192

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr17:75694192

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr17:75694192

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr17:75694192

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr17:75694192

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr17:75694192

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr17:75694192

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr17:75694192

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr17:75694192

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr17:75694192

 

GS20502 - var-GS20502-1100-36-ASM
hom G @ chr17:75694192

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr17:75694192

 

NA07022

 

NA12878

 

NA18507

 

NA18555

 

NA18956

 

NA19129

 

snp-18

 

snp-29

 

Deleted in this revision:

snp-29

 

snp-3

 

snp-30

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs1042393
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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