chr11:71444950:C>T Detail (hg38) (DHCR7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:71,155,996-71,155,996 View the variant detail on this assembly version. |
| hg38 | chr11:71,444,950-71,444,950 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001163817.1:c.3G>A | NP_001157289.1:p.? |
| NM_001360.2:c.3G>A | NP_001351.2:p.? | |
| Ensemble | ENST00000355527.8:c.3G>A | ENST00000355527.8:p.? |
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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2023-09-10 | criteria provided, multiple submitters, no conflicts | Smith-Lemli-Opitz syndrome |
germline
unknown
|
Detail |
|
Likely pathogenic
|
2023-07-06 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.610 | Smith-Lemli-Opitz syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) AND Smith-Lemli-Opitz syndrome | ClinVar | Detail |
| NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) AND not provided | ClinVar | Detail |
| NA | DisGeNET | 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
- rs121909767 dbSNP
- Genome
- hg38
- Position
- chr11:71,444,950-71,444,950
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser