chr9:133755904:G>C Detail (hg19) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,755,904-133,755,904 |
| hg38 | chr9:130,880,517-130,880,517 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005157.5:c.1531G>C | NP_005148.2:p.Gly511Arg |
| NM_007313.2:c.1588G>C | NP_009297.2:p.Gly530Arg | |
| Ensemble | ENST00000318560.6:c.1531G>C | ENST00000318560.6:p.Gly511Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2020-05-20 | criteria provided, single submitter | Congenital heart defects and skeletal malformations syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005157.6(ABL1):c.1531G>C (p.Gly511Arg) AND Congenital heart defects and skeletal malformations sy... | 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
- rs1831433170 dbSNP
- Genome
- hg19
- Position
- chr9:133,755,904-133,755,904
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser