NPC1 M642I - 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)

NPC1 M642I

(NPC1 Met642Ile)


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

  • G @ chr18:21124945: 73.8% (7935/10758) in EVS
  • G @ chr18:19378942: 69.3% (61/88) in GET-Evidence
  • Frequency shown in summary reports: 73.8% (7935/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr18:21124945

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr18:21124945

 

 

hu604D39

 

 

huAE6220

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom G @ chr18:21124945

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr18:21124945

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr18:21124945

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr18:19378943

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr18:19378943

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr18:19378943

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr18:19378943

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr18:19378943

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr18:19378943

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr18:19378943

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr18:19378943

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr18:19378943

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr18:19378943

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr18:19378943

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr18:19378943

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr18:19378943

 

Added in this revision:

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr18:19378943

 

NA07022

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-2

 

snp-27

 

snp-28

 

snp-29

 

snp-3

 

snp-30

 

snp-31

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs1788799
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (1 hit -- see all)
  • MAF
    NPC1. rs1617407. 5'UTR (G>A) 0.425. type C1. rs1805081. H215R (T>C) 0.420. rs1788799. M642I (G>C) ... For SNPs in the 5' or 3' untranslated regions (UTR), the nucleotide change and. the ...
    biomedcentral.com/.../supplementary/1471-2350-10-111-s1.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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