KCNQ4 H455Q - 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:

KCNQ4 H455Q

(KCNQ4 His455Gln)


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 @ chr1:41296828: 17.4% (1872/10750) in EVS
  • G @ chr1:41069414: 15.6% (19/122) in GET-Evidence
  • Frequency shown in summary reports: 17.4% (1872/10750)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr1:41296828

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr1:41296828

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr1:41296828

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chr1:41296828

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr1:41296828

 

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr1:41069415

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr1:41069415

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr1:41069415

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr1:41069415

 

Other external references
 

    dbSNP
  • rs34287852
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the KCNQ4 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    Erythrokeratodermia Variabilis
    DFNA 2 Nonsyndromic Hearing Loss
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNQ4
    PolyPhen-2
  • Score: 0.191 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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