chr7:128846398:C>T Detail (hg19) (SMO)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:128,846,398-128,846,398 |
| hg38 | chr7:129,206,557-129,206,557 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005631.4:c.1234C>T | NP_005622.1:p.Leu412Phe |
| Ensemble | ENST00000249373.8:c.1234C>T | ENST00000249373.8:p.Leu412Phe |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2019-03-22 | criteria provided, single submitter | Curry-Jones syndrome |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| basal cell carcinoma | Vismodegib | D |
Predictive
|
Supports
|
Resistance | Somatic | 25759020 | Detail | |
| basal cell carcinoma | Vismodegib | C |
Predictive
|
Supports
|
Resistance | Somatic | 26822128 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In an in vitro study, mouse embryonic fibroblasts (MEFs), null for the Smo mouse gene expressing SMO... | CIViC Evidence | Detail |
| An Arab basal cell carcinoma patient harboring SMO L412F mutation was associated with response to vi... | CIViC Evidence | Detail |
| NM_005631.5(SMO):c.1234C>T (p.Leu412Phe) AND Curry-Jones syndrome | 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
- rs879255280 dbSNP
- Genome
- hg19
- Position
- chr7:128,846,398-128,846,398
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- L412F
- Transcript 1 (CIViC Variant)
- ENST00000249373.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1570
Genome browser