COL6A1 R850H - 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:

(See the latest version)

COL6A1 R850H

(COL6A1 Arg850His)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • A @ chr21:47423389: 34.1% (3615/10596) in EVS
  • A @ chr21:46247816: 33.9% (40/118) in GET-Evidence
  • Frequency shown in summary reports: 34.1% (3615/10596)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr21:47423389

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr21:47423389

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr21:47423389

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr21:46247817

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr21:46247817

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr21:46247817

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr21:46247817

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr21:46247817

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr21:46247817

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr21:46247817

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr21:46247817

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr21:46247817

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr21:46247817

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr21:46247817

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr21:46247817

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr21:46247817

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr21:46247817

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr21:46247817

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr21:46247817

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr21:46247817

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr21:46247817

 

GS19834 - var-GS19834-1100-36-ASM
hom A @ chr21:46247817

 

GS20509 - var-GS20509-1100-36-ASM
hom A @ chr21:46247817

 

Added in this revision:

GS21767 - var-GS21767-1100-36-ASM
het A @ chr21:46247817

 

NA07022

 

NA12878

 

NA18507

 

NA19129

 

NA19240

 

snp-28

 

snp-30

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs1053312
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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