chrX:55021182:G>A Detail (hg38) (ALAS2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:55,047,615-55,047,615 View the variant detail on this assembly version. |
| hg38 | chrX:55,021,182-55,021,182 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001037967.3:c.397C>T | NP_001033056.1:p.Arg133Cys |
| NM_001037968.3:c.469C>T | NP_001033057.1:p.Arg157Cys | |
| Ensemble | ENST00000335854.8:c.397C>T | ENST00000335854.8:p.Arg133Cys |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
anemia, sideroblastic |
germline
|
MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2023-12-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000032.5(ALAS2):c.508C>T (p.Arg170Cys) AND not provided | ClinVar | 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
- rs1557248142 dbSNP
- Genome
- hg38
- Position
- chrX:55,021,182-55,021,182
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser