FBN3 G1614S - 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:

FBN3 G1614S

(FBN3 Gly1614Ser)


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 @ chr19:8168545: 24.6% (2650/10758) in EVS
  • T @ chr19:8074544: 19.5% (25/128) in GET-Evidence
  • Frequency shown in summary reports: 24.6% (2650/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom T @ chr19:8168545

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr19:8168545

 

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom T @ chr19:8168545

 

 

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr19:8168545

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr19:8168545

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr19:8168545

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr19:8074545

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr19:8074545

 

GS19648 - var-GS19648-1100-36-ASM
hom T @ chr19:8074545

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr19:8074545

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr19:8074545

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr19:8074545

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr19:8074545

 

NA12878

 

Other external references
 

    dbSNP
  • rs33967815
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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