LCA5L G17S - 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:

LCA5L G17S

(LCA5L Gly17Ser)


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 @ chr21:40800371: 26.6% (2866/10758) in EVS
  • TGA @ chr21:39722240: 17.2% (20/116) in GET-Evidence
  • Frequency shown in summary reports: 26.6% (2866/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr21:40800371

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr21:40800371

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr21:40800371

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr21:40800371

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr21:40800371

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr21:40800371

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr21:40800371

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr21:40800371

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr21:40800371

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr21:40800371

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr21:40800371

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr21:40800371

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr21:39722241

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr21:39722241

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr21:39722241

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr21:39722241

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr21:39722241

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr21:39722241

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr21:39722241

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr21:39722241

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr21:39722241

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr21:39722241

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr21:39722241

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr21:39722241

 

NA19240

 

Other external references
 

    dbSNP
  • rs2837029
    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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