chr1:155205634:T>C Detail (hg19) (GBA1, LOC106627981)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:155,205,634-155,205,634 |
| hg38 | chr1:155,235,843-155,235,843 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001171812.1:c.1079A>G | NP_001165283.1:p.Asn360Ser |
| NM_000157.3:c.1226A>G | NP_000148.2:p.Asn409Ser | |
| NM_001171811.1:c.965A>G | NP_001165282.1:p.Asn322Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic; risk factor
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
Likely pathogenic
|
2023-11-25 | criteria provided, multiple submitters, no conflicts | Gaucher disease type I |
inherited
germline
unknown
|
Detail |
|
Pathogenic
|
2021-05-03 | criteria provided, multiple submitters, no conflicts | Parkinson disease, late-onset |
germline
|
Detail |
risk factor
|
2010-08-01 | no assertion criteria provided | Dementia, Lewy body, susceptibility to |
germline
|
Detail |
|
Pathogenic
|
2024-01-25 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2020-01-22 | criteria provided, multiple submitters, no conflicts | Gaucher disease |
germline
maternal
|
Detail |
|
Likely pathogenic
|
2014-02-19 | criteria provided, single submitter |
unknown
|
Detail | |
|
Pathogenic
|
2022-02-20 | criteria provided, single submitter | Gaucher disease perinatal lethal,Gaucher disease type III,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Lewy body dementia |
unknown
|
Detail |
|
Pathogenic
|
2022-02-20 | criteria provided, single submitter | Gaucher disease perinatal lethal,Gaucher disease type III,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Lewy body dementia |
unknown
|
Detail |
|
Pathogenic
|
2022-02-20 | criteria provided, single submitter | Gaucher disease perinatal lethal,Gaucher disease type III,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Lewy body dementia |
unknown
|
Detail |
|
Pathogenic
|
2022-02-20 | criteria provided, single submitter | Gaucher disease perinatal lethal,Gaucher disease type III,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Lewy body dementia |
unknown
|
Detail |
|
Pathogenic
|
2022-02-20 | criteria provided, single submitter | Gaucher disease perinatal lethal,Gaucher disease type III,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Lewy body dementia |
unknown
|
Detail |
|
Pathogenic
|
2022-02-20 | criteria provided, single submitter | Gaucher disease perinatal lethal,Gaucher disease type III,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Lewy body dementia |
unknown
|
Detail |
|
Pathogenic
|
2022-02-20 | criteria provided, single submitter | Gaucher disease perinatal lethal,Gaucher disease type III,Parkinson disease, late-onset,Gaucher disease type I,Gaucher disease type II,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Lewy body dementia |
unknown
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Gaucher disease type II,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I |
germline
|
Detail | |
|
Pathogenic
|
criteria provided, single submitter | Gaucher disease type II,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I |
germline
|
Detail | |
|
Pathogenic
|
criteria provided, single submitter | Gaucher disease type II,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I |
germline
|
Detail | |
|
Pathogenic
|
criteria provided, single submitter | Gaucher disease type II,Gaucher disease type III,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Gaucher disease type I |
germline
|
Detail | |
|
risk factor
|
2020-04-14 | criteria provided, single submitter | Parkinson disease |
germline
|
Detail |
|
Pathogenic
|
2019-03-04 | criteria provided, multiple submitters, no conflicts | Gaucher disease perinatal lethal |
unknown
|
Detail |
Uncertain significance
|
2020-05-01 | no assertion criteria provided |
germline
|
Detail | |
|
Pathogenic
|
2022-05-04 | criteria provided, single submitter | Lewy body dementia |
germline
|
Detail |
|
Pathogenic
|
2024-02-21 | criteria provided, single submitter | GBA1-related disorder |
germline
|
Detail |
|
Pathogenic
|
2020-12-30 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Likely pathogenic
|
2023-11-08 | criteria provided, single submitter | Lewy body dementia,Parkinson disease, late-onset |
germline
|
Detail |
|
Likely pathogenic
|
2023-11-08 | criteria provided, single submitter | Lewy body dementia,Parkinson disease, late-onset |
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 | A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mut... | UNIPROT | 10206680 | Detail |
| 0.120 | Parkinson disease, late-onset | NA | CLINVAR | Detail | |
| 0.355 | Gaucher disease | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND Gaucher disease type I | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND Parkinson disease, late-onset | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND Dementia, Lewy body, susceptibility to | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND not provided | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND Gaucher disease | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND Parkinson disease | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND Gaucher disease perinatal lethal | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND Lewy body dementia | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND GBA1-related disorder | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND not specified | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
| A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. ... | 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
- rs76763715 dbSNP
- Genome
- hg19
- Position
- chr1:155,205,634-155,205,634
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121250
- Allele Counts in All Race (ExAC)
- 268
- Heterozygous Counts in All Race (ExAC)
- 266
- Homozygous Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 0.0022103092783505155
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