chr1:155210420:C>T Detail (hg19) (GBA1)

Information

Genome

Assembly Position
hg19 chr1:155,210,420-155,210,420
hg38 chr1:155,240,629-155,240,629 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001171811.1:c.-146-552G>A
NM_000157.3:c.115+1G>A
NM_001171812.1:c.115+1G>A
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Likely 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 tgv3326188 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2000-01-01 no assertion criteria provided Gaucher disease type II germline Detail
Pathogenic 2020-01-13 criteria provided, multiple submitters, no conflicts Gaucher disease germline Detail
Pathogenic 2019-12-09 criteria provided, single submitter Gaucher disease type I germline unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type III unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type III unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type III unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type III unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type III unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type III unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Lewy body dementia,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I,Parkinson disease, late-onset,Gaucher disease perinatal lethal,Gaucher disease type III unknown Detail
Pathogenic 2023-08-10 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type II,Gaucher disease type III,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type II,Gaucher disease type III,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type II,Gaucher disease type III,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome germline Detail
Pathogenic criteria provided, single submitter Gaucher disease type II,Gaucher disease type III,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome germline Detail
Pathogenic Likely pathogenic 2021-10-18 criteria provided, multiple submitters, no conflicts Parkinson disease, late-onset germline unknown Detail
Pathogenic 2017-01-31 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.445 Gaucher Disease, Type 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000157.4(GBA1):c.115+1G>A AND Gaucher disease type II ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND Gaucher disease ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND Gaucher disease type I ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND not provided ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND multiple conditions ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND Parkinson disease, late-onset ClinVar Detail
NM_000157.4(GBA1):c.115+1G>A AND not specified ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs104886460 dbSNP
Genome
hg19
Position
chr1:155,210,420-155,210,420
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs104886460
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)
8642
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3142791020597085E-4
Chromosome Counts in All Race (ExAC)
121336
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)
1.1538207951473594E-4
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