chr16:227313:C>A Detail (hg19) (HBA1, LOC106804613)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:227,313-227,313 |
| hg38 | chr16:177,314-177,314 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000558.4:c.332C>A | NP_000549.1:p.Ala111Asp |
| Ensemble | ENST00000320868.9:c.332C>A | ENST00000320868.9:p.Ala111Asp |
| ENST00000397797.1:c.236C>A | ENST00000397797.1:p.Ala79Asp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
other
|
2016-07-20 | no assertion criteria provided |
germline
|
Detail | |
|
Likely pathogenic
|
2021-01-15 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2022-04-22 | criteria provided, single submitter | alpha thalassemia,Erythrocytosis, familial, 7,Methemoglobinemia, alpha type,hemoglobin H disease,Heinz body anemia |
unknown
|
Detail |
|
Likely pathogenic
|
2022-04-22 | criteria provided, single submitter | alpha thalassemia,Erythrocytosis, familial, 7,Methemoglobinemia, alpha type,hemoglobin H disease,Heinz body anemia |
unknown
|
Detail |
|
Likely pathogenic
|
2022-04-22 | criteria provided, single submitter | alpha thalassemia,Erythrocytosis, familial, 7,Methemoglobinemia, alpha type,hemoglobin H disease,Heinz body anemia |
unknown
|
Detail |
|
Likely pathogenic
|
2022-04-22 | criteria provided, single submitter | alpha thalassemia,Erythrocytosis, familial, 7,Methemoglobinemia, alpha type,hemoglobin H disease,Heinz body anemia |
unknown
|
Detail |
|
Likely pathogenic
|
2022-04-22 | criteria provided, single submitter | alpha thalassemia,Erythrocytosis, familial, 7,Methemoglobinemia, alpha type,hemoglobin H disease,Heinz body anemia |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) AND HEMOGLOBIN PETAH TIKVA | ClinVar | Detail |
| NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) AND not provided | ClinVar | Detail |
| NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) AND multiple conditions | ClinVar | Detail |
| NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) AND multiple conditions | ClinVar | Detail |
| NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) AND multiple conditions | ClinVar | Detail |
| NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) AND multiple conditions | ClinVar | Detail |
| NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) AND multiple conditions | 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
- rs63749948 dbSNP
- Genome
- hg19
- Position
- chr16:227,313-227,313
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser