LAMA5 M1258T - 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:

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LAMA5 M1258T

(LAMA5 Met1258Thr)


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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 @ chr20:60905878: 80.4% (8371/10416) in EVS
  • G @ chr20:60339272: 68.5% (74/108) in GET-Evidence
  • Frequency shown in summary reports: 80.4% (8371/10416)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr20:60905878

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr20:60905878

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr20:60905878

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr20:60905878

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chr20:60905878

 

huBEDA0B

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr20:60905878

 

GS06985 - var-GS06985-1100-36-ASM
hom G @ chr20:60339273

 

GS07357 - var-GS07357-1100-36-ASM
hom G @ chr20:60339273

 

GS10851 - var-GS10851-1100-36-ASM
hom G @ chr20:60339273

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr20:60339273

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr20:60339273

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr20:60339273

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr20:60339273

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr20:60339273

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr20:60339273

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr20:60339273

 

Added in this revision:

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr20:60339273

 

NA07022

 

NA12156

 

NA12878

 

NA18507

 

NA18555

 

NA18956

 

NA19129

 

snp-1

 

snp-18

 

snp-2

 

snp-28

 

snp-29

 

snp-3

 

snp-30

 

snp-31

 

snp-6

 

Other external references
 

    dbSNP
  • rs3810548
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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