chr11:71155209:G>A Detail (hg19) (DHCR7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:71,155,209-71,155,209 |
| hg38 | chr11:71,444,163-71,444,163 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001163817.1:c.151C>T | NP_001157289.1:p.Pro51Ser |
| NM_001360.2:c.151C>T | NP_001351.2:p.Pro51Ser | |
| Ensemble | ENST00000682880.1:c.151C>T | ENST00000682880.1:p.Pro51Ser |
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
|
2020-10-26 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-07-16 | criteria provided, multiple submitters, no conflicts | Smith-Lemli-Opitz syndrome |
germline
unknown
|
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.151C>T (p.Pro51Ser) AND not provided | ClinVar | Detail |
| NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser) AND Smith-Lemli-Opitz syndrome | 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
- rs104886035 dbSNP
- Genome
- hg19
- Position
- chr11:71,155,209-71,155,209
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser