chr1:155236328:A>C Detail (hg38) (GBA1, LOC106627981)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:155,206,119-155,206,119 View the variant detail on this assembly version. |
hg38 | chr1:155,236,328-155,236,328 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001005741.2:c.1141T>G | NP_001005741.1:p.Cys381Gly |
NM_001005742.2:c.1141T>G | NP_001005742.1:p.Cys381Gly | |
NM_000157.3:c.1141T>G | NP_000148.2:p.Cys381Gly |
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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1990-12-15 | no assertion criteria provided | Gaucher disease type II |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.441 | Gaucher Disease, Type 2 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000157.4(GBA1):c.1141T>G (p.Cys381Gly) AND Gaucher disease type II | 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
- rs121908306 dbSNP
- Genome
- hg38
- Position
- chr1:155,236,328-155,236,328
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser