TM6SF1 P59S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

TM6SF1 P59S

(TM6SF1 Pro59Ser)


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 @ chr15:83781631: 7.2% (775/10758) in EVS
  • T @ chr15:81572634: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 7.2% (775/10758)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr15:83781631

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr15:83781631

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr15:83781631

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr15:83781631

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr15:83781631

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr15:83781631

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chr15:81572635

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr15:81572635

 

Other external references
 

    dbSNP
  • rs1989
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.998 (probably damaging)
    Web search results (3 hits -- see all)
  • TM6SF1 Gene - GeneCards | TM6S1 Protein | TM6S1 Antibody
    TM6SF1 Gene in genomic location: bands according to Ensembl, locations according to (and ... TM6SF1 for ontologies About GeneDecksing. Antibodies for TM6SF1: ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=TM6SF1
  • Table 1 Text
    ... 122 rs1989 TM6SF1 53346 15 81572635 NM_023003 NP_075379 C/T P59S plus ... 6 superfamily member 1 123 rs1989 TM6SF1 53346 15 81572635 NM_023003 NP_075379 C/T P59S plus 2015 885 ...
    icr.ac.uk/research/research_sections/.../2841.txt
  • Transmembrane 6 superfamily member 1 - Homo sapiens (Human)
    TM6SF1. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... "Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes ...
    www.uniprot.org/uniprot/Q9BZW5

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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