chr11:6412711:T>C Detail (hg19) (SMPD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:6,412,711-6,412,711 |
| hg38 | chr11:6,391,481-6,391,481 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000543.4:c.416T>C | NP_000534.3:p.Leu139Pro |
| NM_001007593.2:c.416T>C | NP_001007594.2:p.Leu139Pro | |
| NM_001318087.1:c.416T>C | NP_001305016.1:p.Leu139Pro |
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 |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Sphingomyelin/cholesterol lipidosis |
germline
|
Detail | |
|
Likely pathogenic
|
2020-05-03 | criteria provided, single submitter | not provided |
unknown
|
Detail |
|
Likely pathogenic
|
2021-07-22 | criteria provided, single submitter | Niemann-Pick disease, type B |
germline
|
Detail |
|
Pathogenic
|
2023-11-24 | criteria provided, single submitter | Niemann-Pick disease, type B,Niemann-Pick disease, type A |
germline
|
Detail |
|
Pathogenic
|
2023-11-24 | criteria provided, single submitter | Niemann-Pick disease, type B,Niemann-Pick disease, type A |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.266 | Niemann-Pick Diseases | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) AND Sphingomyelin/cholesterol lipidosis | ClinVar | Detail |
| NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) AND not provided | ClinVar | Detail |
| NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) AND Niemann-Pick disease, type B | ClinVar | Detail |
| NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) AND multiple conditions | ClinVar | Detail |
| NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) AND multiple conditions | 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
- rs797044797 dbSNP
- Genome
- hg19
- Position
- chr11:6,412,711-6,412,711
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser