NPSR1 S241R - 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:

NPSR1 S241R

(NPSR1 Ser241Arg)


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 @ chr7:34874038: 22.9% (2461/10758) in EVS
  • G @ chr7:34840562: 27.3% (35/128) in GET-Evidence
  • Frequency shown in summary reports: 22.9% (2461/10758)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr7:34874038

 

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr7:34874038

 

 

 

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr7:34840563

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr7:34840563

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr7:34840563

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr7:34840563

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr7:34840563

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr7:34840563

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr7:34840563

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr7:34840563

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr7:34840563

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr7:34840563

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr7:34840563

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr7:34840563

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr7:34840563

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr7:34840563

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr7:34840563

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr7:34840563

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr7:34840563

 

GS19649 - var-GS19649-1100-36-ASM
hom G @ chr7:34840563

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr7:34840563

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr7:34840563

 

Other external references
 

    dbSNP
  • rs727162
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.019 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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