LAMA1 S1577A - 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:

LAMA1 S1577A

(LAMA1 Ser1577Ala)


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

  • C @ chr18:6997818: 23.1% (2490/10758) in EVS
  • C @ chr18:6987817: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 23.1% (2490/10758)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr18:6997818

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr18:6997818

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr18:6997818

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr18:6997818

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr18:6997818

 

 

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr18:6987818

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr18:6987818

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr18:6987818

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr18:6987818

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr18:6987818

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr18:6987818

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr18:6987818

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr18:6987818

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr18:6987818

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr18:6987818

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr18:6987818

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr18:6987818

 

Other external references
 

    dbSNP
  • rs12961939
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.397 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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