CHGA G382S - GET-Evidence

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

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Curation:
Currentness:

CHGA G382S

(CHGA Gly382Ser)


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 @ chr14:93399050: 2.1% (227/10714) in EVS
  • A @ chr14:92468802: 4.4% (5/114) in GET-Evidence
  • Frequency shown in summary reports: 2.1% (227/10714)

Publications
 

Genomes
 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr14:93399050

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr14:93399050

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr14:93399050

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr14:92468803

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr14:92468803

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr14:92468803

 

Other external references
 

    dbSNP
  • rs9658667
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (9 hits -- see all)
  • Chromogranin-A precursor - Homo sapiens (Human)
    CHGA. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... contribute functional variation at CHGA, a regulator of catecholamine physiology. ...
    www.uniprot.org/uniprot/P10645
  • Renal Albumin Excretion: Twin Studies Identify Influences of ...
    20. 5.58±0.987. Chromogranin A. CHGA. CHGA6. Glu246Asp. ORF. rs9658655. W/W. 290 ... 1.71. Chromogranin A. CHGA. CHGA7. Gly364Ser. ORF. rs9658667. W/W. 105. 4.76 ...
    hyper.ahajournals.org/cgi/content/full/49/5/1015/TBL2
  • Hypertension -- Rao et al. 49 (5): 1015 Table BL2
    20. 5.58±0.987. Chromogranin A. CHGA. CHGA6. Glu246Asp. ORF. rs9658655. W/W. 290 ... 1.71. Chromogranin A. CHGA. CHGA7. Gly364Ser. ORF. rs9658667. W/W. 105. 4.76 ...
    hyper.ahajournals.org/cgi/content-nw/full/49/5/1015/TBL2
  • Functional nsSNPs from carcinogenesis-related genes expressed ...
    tW. Pr. obably. damaging. IM. CHGA. NM_001275.2. rs9658667. G382S. ggc/ agc. aS. Po. ssibly. damaging ... CHGA. rs9658667. G382S. 114 chr. G ¼ 1.000. 88 chr. G ¼ 0.982. A ¼ 0.018 ...
    www.ozceliklab.com/papers/H_G_06_02.pdf
  • UniProt: CMGA_HUMAN
    AC P10645; B2R9E9; Q53FA8; Q6NR84; Q96E84; Q96GL7; Q9BQB5; DT 01-JUL-1989, ... functional variation at RT CHGA, a regulator of catecholamine physiology. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:CMGA_HUMAN
  • omega data
    ... A2M ENSG00000175899 ENST00000318602 4.6672 p>0.05 2.247 rs226405 12 9139500 ... A2M ENSG00000175899 ENST00000318602 0.0000 p>0.05 0.128 rs34470791 17 ...
    bioinfo.cipf.es/francisco/project/replicabilty/...

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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