chrX:100656701:C>T Detail (hg19) (GLA, RPL36A-HNRNPH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:100,656,701-100,656,701 |
| hg38 | chrX:101,401,713-101,401,713 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000169.2:c.466G>A | NP_000160.1:p.Ala156Thr |
| Ensemble | ENST00000218516.4:c.466G>A | ENST00000218516.4:p.Ala156Thr |
| ENST00000649178.1:c.589G>A | ENST00000649178.1:p.Ala197Thr |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001199974.1:c.177+9891C>T | |
| NM_001199973.1:c.300+6256C>T | ||
| Ensemble | ENST00000409338.5:c.177+9891C>T |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 300644 | OMIM |
| HGNC | 4296 | HGNC | |
| Ensembl | ENSG00000102393 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | 48349 | HGNC | |
| Ensembl | ENSG00000257529 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2016-10-17 | no assertion criteria provided | Fabry disease |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.665 | Fabry disease | Two novel mutations (L32P) and (G85N) among five different missense mutations in... | UNIPROT | 7599642 | Detail |
| 0.665 | Fabry disease | A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fab... | BeFree | 11316246 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000169.3(GLA):c.466G>A (p.Ala156Thr) AND Fabry disease | ClinVar | Detail |
| Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families... | DisGeNET | Detail |
| A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease. | 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
- rs28935195 dbSNP
- Genome
- hg19
- Position
- chrX:100,656,701-100,656,701
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser