ABCA12 D2365N - 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:

ABCA12 D2365N

(ABCA12 Asp2365Asn)


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

  • T @ chr2:215813331: 1.9% (207/10758) in EVS
  • T @ chr2:215521575: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.9% (207/10758)

Publications
 

Genomes
 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr2:215813331

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr2:215813331

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr2:215521576

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr2:215521576

 

Other external references
 

    dbSNP
  • rs726070
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the ABCA12 gene
    Autosomal Recessive Congenital Ichthyosis
    ABCA12-Related Autosomal Recessive Congenital Ichthyosis
    Harlequin Ichthyosis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA12
    PolyPhen-2
  • Score: 0.86 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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