chrX:101398390:G>T Detail (hg38) (GLA, RPL36A-HNRNPH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:100,653,378-100,653,378 View the variant detail on this assembly version. |
| hg38 | chrX:101,398,390-101,398,390 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000169.2:c.979C>A | NP_000160.1:p.Gln327Lys |
| Ensemble | ENST00000218516.4:c.979C>A | ENST00000218516.4:p.Gln327Lys |
| ENST00000649178.1:c.1102C>A | ENST00000649178.1:p.Gln368Lys |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001199973.1:c.300+2933G>T | |
| NM_001199974.1:c.177+6568G>T | ||
| Ensemble | ENST00000409170.3:c.300+2933G>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
|
1993-07-01 | no assertion criteria provided | Fabry disease |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.665 | Fabry disease | Fabry disease: identification of novel alpha-galactosidase A mutations and molec... | UNIPROT | 10208848 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000169.3(GLA):c.979C>A (p.Gln327Lys) AND Fabry disease | ClinVar | Detail |
| Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detecti... | 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
- rs28935491 dbSNP
- Genome
- hg38
- Position
- chrX:101,398,390-101,398,390
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser