chr1:155238215:T>C Detail (hg38) (GBA1, LOC106627981)

Information

Genome

Assembly Position
hg19 chr1:155,208,006-155,208,006 View the variant detail on this assembly version.
hg38 chr1:155,238,215-155,238,215

HGVS

Type Transcript Protein
RefSeq NM_001005741.2:c.680A>G NP_001005741.1:p.Asn227Ser
NM_001005742.2:c.680A>G NP_001005742.1:p.Asn227Ser
NM_000157.3:c.680A>G NP_000148.2:p.Asn227Ser
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 Pathogenic
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 tgv3325967 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-10-25 criteria provided, single submitter Gaucher disease type I germline Detail
Pathogenic 2004-06-01 no assertion criteria provided Gaucher disease type III germline Detail
Pathogenic 2022-03-04 criteria provided, multiple submitters, no conflicts Gaucher disease germline Detail
Pathogenic 2024-01-05 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic criteria provided, single submitter Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Gaucher disease type II,Gaucher disease type III germline Detail
Pathogenic criteria provided, single submitter Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Gaucher disease type II,Gaucher disease type III germline Detail
Pathogenic criteria provided, single submitter Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Gaucher disease type II,Gaucher disease type III germline Detail
Pathogenic criteria provided, single submitter Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Gaucher disease type II,Gaucher disease type III germline Detail
Pathogenic 2021-12-27 criteria provided, single submitter Gaucher disease type I,Gaucher disease type III,Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter Gaucher disease type I,Gaucher disease type III,Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter Gaucher disease type I,Gaucher disease type III,Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter Gaucher disease type I,Gaucher disease type III,Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter Gaucher disease type I,Gaucher disease type III,Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter Gaucher disease type I,Gaucher disease type III,Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter Gaucher disease type I,Gaucher disease type III,Gaucher disease perinatal lethal,Parkinson disease, late-onset,Lewy body dementia,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type II unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.445 Gaucher Disease, Type 1 NA CLINVAR Detail
0.355 Gaucher disease NA CLINVAR Detail
0.445 Gaucher Disease, Type 1 Analysis and classification of 304 mutant alleles in patients with type 1 and ty... UNIPROT 10796875 Detail
0.441 Gaucher Disease, Type 3 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND Gaucher disease type I ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND Gaucher disease type III ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND Gaucher disease ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND not provided ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease... 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
rs364897 dbSNP
Genome
hg38
Position
chr1:155,238,215-155,238,215
Variant Type
snv
Reference Allele
T
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.60to99.80
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs364897
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))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8418
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1879306248515087E-4
Chromosome Counts in All Race (ExAC)
117424
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.812917291184085E-5
Genome browser