chr1:155208005:AT>CC Detail (hg19) (GBA1, LOC106627981)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:155,208,005-155,208,006 |
hg38 | chr1:155,238,214-155,238,215 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000157.3:c.680_681delinsGG | NP_000148.2:p.Asn227Arg |
NM_001171812.1:c.533_534delinsGG | NP_001165283.1:p.Asn178Arg | |
NM_001005741.2:c.680_681delinsGG | NP_001005741.1:p.Asn227Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2022-05-04 | criteria provided, conflicting interpretations | not provided |
![]() |
Detail |
![]() |
2023-12-07 | criteria provided, single submitter | not specified |
![]() |
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.680_681delinsGG (p.Asn227Arg) AND not provided | ClinVar | Detail |
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg) AND not specified | 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
- rs786200979 dbSNP
- Genome
- hg19
- Position
- chr1:155,208,005-155,208,006
- Variant Type
- snv
- Reference Allele
- AT
- Alternative Allele
- CC
Genome browser