chr1:155235217:C>G Detail (hg38) (GBA1, LOC106627981)

Information

Genome

Assembly Position
hg19 chr1:155,205,008-155,205,008 View the variant detail on this assembly version.
hg38 chr1:155,235,217-155,235,217

HGVS

Type Transcript Protein
RefSeq NM_001005741.2:c.1483G>C NP_001005741.1:p.Ala495Pro
NM_001005742.2:c.1483G>C NP_001005742.1:p.Ala495Pro
NM_000157.3:c.1483G>C NP_000148.2:p.Ala495Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 606463 OMIM
HGNC 4177 HGNC
Ensembl ENSG00000177628 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3325653 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2000-03-01 no assertion criteria provided Gaucher disease type I germline Detail
Pathogenic 2000-03-01 no assertion criteria provided Gaucher disease type II germline Detail
Pathogenic 2000-03-01 no assertion criteria provided Gaucher disease type III germline Detail
Pathogenic 2000-03-01 no assertion criteria provided Gaucher disease perinatal lethal germline Detail
Conflicting interpretations of pathogenicity 2022-05-12 criteria provided, conflicting interpretations not specified germline Detail
Pathogenic 2022-09-15 criteria provided, single submitter not provided germline Detail
Pathogenic 2021-05-03 criteria provided, single submitter Parkinson disease, late-onset germline Detail
Conflicting interpretations of pathogenicity 2023-03-01 criteria provided, conflicting interpretations not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.445 Gaucher Disease, Type 1 NA CLINVAR Detail
0.445 Gaucher Disease, Type 1 Parkinsonism is an established feature of Gaucher's disease and an increased fre... UNIPROT 19286695 Detail
0.441 Gaucher Disease, Type 2 (disorder) NA CLINVAR Detail
0.441 Gaucher Disease, Type 3 (disorder) NA CLINVAR Detail
0.360 GAUCHER DISEASE, PERINATAL LETHAL NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND Gaucher disease type I ClinVar Detail
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND Gaucher disease type II ClinVar Detail
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND Gaucher disease type III ClinVar Detail
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND Gaucher disease perinatal lethal ClinVar Detail
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) AND not specified ClinVar Detail
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND not provided ClinVar Detail
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C] AND Parkinson disease, late-onset ClinVar Detail
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) AND not provided ClinVar Detail
NA DisGeNET Detail
Parkinsonism is an established feature of Gaucher's disease and an increased frequency of mutations ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1135675 dbSNP
Genome
hg38
Position
chr1:155,235,217-155,235,217
Variant Type
snv
Reference Allele
C
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.80to99.90
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs368060
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3110700254217703E-4
Chromosome Counts in All Race (ExAC)
121380
Allele Counts in All Race (ExAC)
14
Heterozygous Counts in All Race (ExAC)
14
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1534025374855825E-4
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