NIPAL4 S453L - 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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Curation:
Currentness:

NIPAL4 S453L

(NIPAL4 Ser453Leu)


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 @ chr5:156899925: 8.9% (873/9790) in EVS
  • T @ chr5:156832502: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 8.9% (873/9790)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr5:156899925

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr5:156899925

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr5:156899925

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr5:156899925

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr5:156832503

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr5:156832503

 

GS19020 - var-GS19020-1100-36-ASM
hom T @ chr5:156832503

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr5:156832503

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr5:156832503

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr5:156832503

 

Other external references
 

    dbSNP
  • rs61743233
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the NIPAL4 gene
    Autosomal Recessive Congenital Ichthyosis
    NIPAL4-Related Autosomal Recessive Congenital Ichthyosis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NIPAL4
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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