LAMA5 R2226H - 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:

LAMA5 R2226H

(LAMA5 Arg2226His)


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 @ chr20:60895697: 21.8% (2285/10498) in EVS
  • T @ chr20:60329091: 14.7% (17/116) in GET-Evidence
  • Frequency shown in summary reports: 21.8% (2285/10498)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr20:60895697

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr20:60895697

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom T @ chr20:60895697

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr20:60895697

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr20:60895697

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr20:60895697

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr20:60895697

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr20:60895697

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr20:60895697

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr20:60895697

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr20:60895697

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr20:60329092

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr20:60329092

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr20:60329092

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr20:60329092

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr20:60329092

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr20:60329092

 

GS19834 - var-GS19834-1100-36-ASM
hom T @ chr20:60329092

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr20:60329092

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr20:60329092

 

Other external references
 

    dbSNP
  • rs2297587
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.006 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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