CACNG1 G196S - 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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(CACNG1 Gly196Ser)

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr17:65052304: 8.4% (908/10758) in EVS
  • A @ chr17:62482765: 8.7% (11/126) in GET-Evidence
  • Frequency shown in summary reports: 8.4% (908/10758)



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr17:65052304


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr17:65052304


hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr17:65052304




hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr17:65052304


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr17:65052304


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr17:65052304



huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr17:65052304


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr17:65052304


GS12004 - var-GS12004-1100-36-ASM
het A @ chr17:62482766


GS18940 - var-GS18940-1100-36-ASM
het A @ chr17:62482766


GS19669 - var-GS19669-1100-36-ASM
hom A @ chr17:62482766


GS19703 - var-GS19703-1100-36-ASM
het A @ chr17:62482766


GS19735 - var-GS19735-1100-36-ASM
het A @ chr17:62482766


Other external references

  • rs1799938
  • Score: 0.992 (probably damaging)
    Web search results (6 hits -- see all)
  • CACNG1 Gene - GeneCards | CCG1 Protein | CCG1 Antibody
    EntrezGene summary for CACNG1: L-type calcium channels are composed ... CACNG1 Gene in genomic location: bands according to Ensembl, locations according to (and ...
  • Voltage-dependent calcium channel gamma-1 subunit - Homo ...
    CACNG1. Synonyms: CACNLG. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... G S: dbSNP rs1799938. VAR_012063. Hide | Top. SequencesHide. Sequence ...
  • Mooney Lab - MutDB
    CACNG1. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ... DBSNP:rs1799938. 195. G S. NCBI. In dbsnp. None. Not scored. Intronic SNPs. Back to top. Source ...
  • ATDB Database
    TX:0000433,[Target],Cacng1,IC:UniProt. Target. TX:0001033,[Target],Ca2+ voltage-sensitivity ... 196,G -> S (in dbSNP:rs1799938). / FTId=VAR_012063. Sequence. MSQTKMLKVR VTLFCILAGI ...
  • UniProt: CCG1_HUMAN
    AC Q06432; B2R9N3; Q14D59; DT 01-NOV-1995, integrated into UniProtKB ... calcium channel subunit gamma; GN Name=CACNG1; Synonyms=CACNLG; OS Homo sapiens (Human) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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