chr1:155208410:C> Detail (hg19) (GBA1, LOC106627981)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:155,208,410-155,208,410 |
hg38 | chr1:155,238,619-155,238,619 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000157.3:c.486delG | NP_000148.2:p.Ala163ProfsTer37 |
NM_001171812.1:c.339delG | NP_001165283.1:p.Ala114ProfsTer37 | |
NM_001005741.2:c.486delG | NP_001005741.1:p.Ala163ProfsTer37 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2012-07-02 | criteria provided, single submitter | not provided |
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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.487del (p.Ala163fs) AND not provided | ClinVar | 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
- rs398123529 dbSNP
- Genome
- hg19
- Position
- chr1:155,208,410-155,208,410
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- -
Genome browser