chr22:20987548:C>T Detail (hg38) (LZTR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:21,341,837-21,341,837 View the variant detail on this assembly version. |
| hg38 | chr22:20,987,548-20,987,548 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000646124.2:c.365C>T | ENST00000646124.2:p.Ser122Leu |
| ENST00000700578.1:c.365C>T | ENST00000700578.1:p.Ser122Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2014-02-01 | no assertion criteria provided | schwannomatosis 2 |
unknown
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-01-19 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
Uncertain significance
|
2022-09-02 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Uncertain significance
|
2023-07-20 | criteria provided, single submitter | schwannomatosis |
germline
|
Detail |
Likely pathogenic
|
2024-03-01 | criteria provided, single submitter | LZTR1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | schwannomatosis 2 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) AND Schwannomatosis 2 | ClinVar | Detail |
| NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) AND not provided | ClinVar | Detail |
| NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) AND multiple conditions | ClinVar | Detail |
| NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) AND Schwannomatosis | ClinVar | Detail |
| NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) AND LZTR1-related disorder | 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
- rs587777177 dbSNP
- Genome
- hg38
- Position
- chr22:20,987,548-20,987,548
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser