NPC1 M642I - GET-Evidence

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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:

NPC1 M642I

(NPC1 Met642Ile)


Short summary

 

Variant evidence
Computational 2

GVGD: GV 10.12; GD 0.00; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(1);
PolyPhen=benign(0);
Condel=not_computable_was(-1)
Mutation Tasting prediction: Polymorphism p value: 0.999998; protein features (might be) affected DOMAIN SSD gets lost).

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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr18:21124945

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr18:21124945

 

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

 

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

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom G @ chr18:21124945

 

hu232307 - PGP14 (hu232307) build 36, substitution variants, hu232307 build 36 substitution variants
hom G @ chr18:19378943

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom G @ chr18:21124945

 

hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants
hom G @ chr18:19378943

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr18:21124945

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome
het G @ chr18:21124945

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr18:21124945

 

hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289
het G @ chr18:21124945

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr18:21124945

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr18:21124945

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom G @ chr18:21124945

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom G @ chr18:21124945

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr18:21124945

 

hu604D39

 

hu6E4515 - PGP15 (hu6E4515) build 37, from CGI var (software ver 1.12.0.47), CGI sample GS000005532
het G @ chr18:21124945

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants
hom G @ chr18:19378943

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom G @ chr18:21124945

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom G @ chr18:21124945

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr18:21124945

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom G @ chr18:21124945

 

huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909
het G @ chr18:21124945

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom G @ chr18:21124945

 

huAE6220

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom G @ chr18:21124945

 

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

 

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

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom G @ chr18:21124945

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr18:21124945

 

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

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr18:21124945

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
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

 

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

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr18:19378943

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr18:19378943

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr18:19378943

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr18:19378943

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr18:19378943

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr18:19378943

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr18:19378943

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr18:19378943

 

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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