OBSCN V2720M - 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:

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OBSCN V2720M

(OBSCN Val2720Met)


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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

  • A @ chr1:228468458: 29.6% (2995/10104) in EVS
  • A @ chr1:226535080: 32.3% (40/124) in GET-Evidence
  • Frequency shown in summary reports: 29.6% (2995/10104)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr1:228468458

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr1:228468458

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr1:228468458

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr1:228468458

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr1:228468458

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr1:228468458

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr1:228468458

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr1:228468458

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr1:228468458

 

Added in this revision:

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr1:228468458

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chr1:226535081

 

GS12004 - var-GS12004-1100-36-ASM
hom A @ chr1:226535081

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr1:226535081

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr1:226535081

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr1:226535081

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr1:226535081

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr1:226535081

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr1:226535081

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr1:226535081

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr1:226535081

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr1:226535081

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr1:226535081

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr1:226535081

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr1:226535081

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr1:226535081

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr1:226535081

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr1:226535081

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr1:226535081

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr1:226535081

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr1:226535081

 

GS20502 - var-GS20502-1100-36-ASM
hom A @ chr1:226535081

 

Other external references
 

    dbSNP
  • rs1188697
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.839 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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