chr9:35657983:G>A Detail (hg38) (RMRP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:35,657,980-35,657,980 View the variant detail on this assembly version. |
| hg38 | chr9:35,657,983-35,657,983 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2024-01-24 | criteria provided, single submitter | anauxetic dysplasia |
germline
|
Detail |
Uncertain significance
|
2020-09-16 | no assertion criteria provided | Metaphyseal chondrodysplasia, McKusick type |
germline
|
Detail |
|
Likely pathogenic
|
2021-09-17 | criteria provided, single submitter | Metaphyseal dysplasia without hypotrichosis,anauxetic dysplasia 1,Metaphyseal chondrodysplasia, McKusick type |
unknown
|
Detail |
|
Likely pathogenic
|
2021-09-17 | criteria provided, single submitter | Metaphyseal dysplasia without hypotrichosis,anauxetic dysplasia 1,Metaphyseal chondrodysplasia, McKusick type |
unknown
|
Detail |
|
Likely pathogenic
|
2021-09-17 | criteria provided, single submitter | Metaphyseal dysplasia without hypotrichosis,anauxetic dysplasia 1,Metaphyseal chondrodysplasia, McKusick type |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NR_003051.4(RMRP):n.37C>T AND Anauxetic dysplasia | ClinVar | Detail |
| NR_003051.4(RMRP):n.37C>T AND Metaphyseal chondrodysplasia, McKusick type | ClinVar | Detail |
| NR_003051.4(RMRP):n.37C>T AND multiple conditions | ClinVar | Detail |
| NR_003051.4(RMRP):n.37C>T AND multiple conditions | ClinVar | Detail |
| NR_003051.4(RMRP):n.37C>T 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
- rs549085067 dbSNP
- Genome
- hg38
- Position
- chr9:35,657,983-35,657,983
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser