GLA p.Thr410Pro (p.T410P) Detail (hg38) (GLA, RPL36A-HNRNPH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:100,652,859-100,652,859 View the variant detail on this assembly version. |
| hg38 | chrX:101,397,871-101,397,871 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000169.2:c.1228A>C | NP_000160.1:p.Thr410Pro |
| Ensemble | ENST00000218516.4:c.1228A>C | ENST00000218516.4:p.Thr410Pro |
| ENST00000649178.1:c.1351A>C | ENST00000649178.1:p.Thr451Pro |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001199973.1:c.300+2414T>G | |
| NM_001199974.1:c.177+6049T>G | ||
| Ensemble | ENST00000409170.3:c.300+2414T>G |
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
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
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
- -
- Genome
- hg38
- Position
- chrX:101,397,871-101,397,871
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser