PCM1 M597V - 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:

(See the latest version)

PCM1 M597V

(PCM1 Met597Val)


You are viewing an old version of this page that was saved on June 22, 2011 at 11:37pm 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

  • G @ chr8:17814915: 81.7% (8044/9850) in EVS
  • G @ chr8:17859194: 72.7% (93/128) in GET-Evidence
  • Frequency shown in summary reports: 81.7% (8044/9850)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr8:17814915

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr8:17814915

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom G @ chr8:17814915

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr8:17814915

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr8:17814915

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr8:17814915

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr8:17814915

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr8:17814915

 

GS06985 - var-GS06985-1100-36-ASM
hom G @ chr8:17859195

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr8:17859195

 

GS07357 - var-GS07357-1100-36-ASM
hom G @ chr8:17859195

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr8:17859195

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr8:17859195

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr8:17859195

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr8:17859195

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr8:17859195

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr8:17859195

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr8:17859195

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr8:17859195

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr8:17859195

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr8:17859195

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr8:17859195

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr8:17859195

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr8:17859195

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr8:17859195

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr8:17859195

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr8:17859195

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr8:17859195

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr8:17859195

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr8:17859195

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr8:17859195

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr8:17859195

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr8:17859195

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr8:17859195

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr8:17859195

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr8:17859195

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chr8:17859195

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr8:17859195

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr8:17859195

 

GS19704 - var-GS19704-1100-36-ASM
hom G @ chr8:17859195

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr8:17859195

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr8:17859195

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr8:17859195

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr8:17859195

 

NA07022

 

NA18507

 

NA19240

 

snp-18

 

snp-2

 

Deleted in this revision:

snp-2

 

snp-27

 

snp-28

 

snp-3

 

snp-30

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs208753
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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