GBA K144R - GET-Evidence

Curation:
Currentness:

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GBA K144R

(GBA Lys144Arg)


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Edited in this revision:

Short summary

Causes Gaucher’s disease, a recessive disorder whose symptoms include anemia, bruising, bone lesions, and spleen and liver issues. Reported to ClinVar by OMIM and Emory Genetics Laboratory (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004509/), numerous publications cite this variant as causing the disease.

Variant evidence
Computational -
Functional -
Case/Control 5

well-established

Familial 5

well-established

 
Clinical importance
Severity 3
Treatability 4
Penetrance 5
 

Impact

High clinical importance, pathogenic

(The "high clinical importance, " qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr1:153453352: 61.9% (78/126) in GET-Evidence
  • Frequency shown in summary reports: 61.9% (78/126)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr1:155186729

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr1:155186729

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom C @ chr1:155186729

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr1:155186729

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr1:155186729

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chr1:155186729

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr1:155186729

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr1:155186729

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr1:155186729

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr1:155186729

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr1:155186729

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr1:155186729

 

 

hu728FFF - hu728FFF build 36 substitution variants
het C @ chr1:153453353

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom C @ chr1:155186729

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr1:155186729

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr1:155186729

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom C @ chr1:155186729

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr1:155186729

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr1:155186729

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr1:155186729

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr1:155186729

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr1:155186729

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr1:155186729

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chr1:155186729

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr1:155186729

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr1:155186729

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr1:155186729

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr1:155186729

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr1:153453353

 

GS06994 - var-GS06994-1100-36-ASM
hom C @ chr1:153453353

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr1:153453353

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr1:153453353

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr1:153453353

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr1:153453353

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr1:153453353

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr1:153453353

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr1:153453353

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr1:153453353

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr1:153453353

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr1:153453353

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr1:153453353

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr1:153453353

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr1:153453353

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr1:153453353

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr1:153453353

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr1:153453353

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr1:153453353

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr1:153453353

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chr1:153453353

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr1:153453353

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr1:153453353

 

GS19238 - var-GS19238-1100-36-ASM
hom C @ chr1:153453353

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr1:153453353

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr1:153453353

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr1:153453353

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr1:153453353

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr1:153453353

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr1:153453353

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr1:153453353

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr1:153453353

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr1:153453353

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr1:153453353

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr1:153453353

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr1:153453353

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr1:153453353

 

Other external references
 

    dbSNP
  • rs28445596
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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