LCTL A240T - 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:

LCTL A240T

(LCTL Ala240Thr)


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 @ chr15:66850362: 2.0% (212/10758) in EVS
  • T @ chr15:64637415: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 2.0% (212/10758)

Publications
 

Genomes
 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr15:66850362

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr15:66850362

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr15:64637416

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr15:64637416

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr15:64637416

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr15:64637416

 

Other external references
 

    dbSNP
  • rs1030986
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.06 (benign)
    Web search results (5 hits -- see all)
  • LCTL Gene - GeneCards | LCTL Protein | LCTL Antibody
    LCTL Gene in genomic location: bands according to Ensembl, locations according ... R&D Systems Antibodies for LCTL (Lactase-like Protein/LCTL) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=LCTL
  • Lactase-like protein precursor - Homo sapiens (Human)
    Enter your search text here. Enter your search query here. Reset button. Fields " Search ... LCTL. Synonyms: KLPH. ORF Names: UNQ3022/PRO9820. Organism. Homo sapiens ...
    www.uniprot.org/uniprot/Q6UWM7
  • UniProt: Q6UWM7
    DT 11-OCT-2005, sequence version 2. DT 19-JAN-2010, entry version 61. DE RecName: ... 197021; -. DR GeneCards; GC15M064628; -. DR HGNC; HGNC:15583; LCTL. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q6UWM7
  • UniProt: LCTL_HUMAN
    DT 11-OCT-2005, sequence version 2. DT 02-MAR-2010, entry version 62. DE RecName: ... GC15M064628; -. DR H-InvDB; HIX0012367; -. DR HGNC; HGNC:15583; LCTL. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:LCTL_HUMAN

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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