chr1:155240629:C>T Detail (hg38) (GBA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:155,210,420-155,210,420 View the variant detail on this assembly version. |
hg38 | chr1:155,240,629-155,240,629 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001005741.2:c.115+1G>A | |
NM_001005742.2:c.115+1G>A | ||
NM_000157.3:c.115+1G>A |
Summary
MGeND
Clinical significance |
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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 |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2000-01-01 | no assertion criteria provided | Gaucher disease type II |
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Detail |
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2020-01-13 | criteria provided, multiple submitters, no conflicts | Gaucher disease |
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Detail |
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2019-12-09 | criteria provided, single submitter | Gaucher disease type I |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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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 |
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Detail |
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2023-08-10 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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criteria provided, single submitter | Gaucher disease type II,Gaucher disease type III,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
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Detail | |
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criteria provided, single submitter | Gaucher disease type II,Gaucher disease type III,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
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Detail | |
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criteria provided, single submitter | Gaucher disease type II,Gaucher disease type III,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
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Detail | |
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criteria provided, single submitter | Gaucher disease type II,Gaucher disease type III,Gaucher disease type I,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
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Detail | |
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2021-10-18 | criteria provided, multiple submitters, no conflicts | Parkinson disease, late-onset |
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Detail |
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2017-01-31 | criteria provided, single submitter | not specified |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.445 | Gaucher Disease, Type 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
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
- hg38
- Position
- chr1:155,240,629-155,240,629
- 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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