RHAG V270I - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

RHAG V270I

(RHAG Val270Ile)


Short summary

This variant was found as a compound heterozygote (with G280R) in a Japanese individual with Rhnull disorder.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr6:49580247: 3.8% (414/10758) in EVS
  • T @ chr6:49688205: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 3.8% (414/10758)

Publications
 

Huang CH, Cheng G, Liu Z, Chen Y, Reid ME, Halverson G, Okubo Y. Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene. Am J Hematol. 1999 Sep;62(1):25-32. PubMed PMID: 10467273.

This variant was found as a compound heterozygote (with G280R) in a Japanese individual with Rhnull disorder.

Genomes
 

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr6:49688206

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr6:49688206

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr6:49688206

 

Other external references
 

    dbSNP
  • rs16879498
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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