HMCN1 D5087V - 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:

HMCN1 D5087V

(HMCN1 Asp5087Val)


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 @ chr1:186134246: 9.5% (1026/10758) in EVS
  • T @ chr1:184400868: 10.2% (13/128) in GET-Evidence
  • Frequency shown in summary reports: 9.5% (1026/10758)

Publications
 

Genomes
 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr1:186134246

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr1:186134246

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr1:184400869

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr1:184400869

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr1:184400869

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr1:184400869

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr1:184400869

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr1:184400869

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr1:184400869

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr1:184400869

 

GS21767 - var-GS21767-1100-36-ASM
hom T @ chr1:184400869

 

Other external references
 

    dbSNP
  • rs41317507
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.351 (possibly damaging)
    Web search results (4 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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