chr12:123688173:C>T Detail (hg38) (TCTN2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:124,172,720-124,172,720 View the variant detail on this assembly version. |
| hg38 | chr12:123,688,173-123,688,173 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001143850.2:c.887C>T | NP_001137322.1:p.Pro296Leu |
| NM_024809.4:c.887C>T | NP_079085.2:p.Pro296Leu | |
| Ensemble | ENST00000303372.7:c.887C>T | ENST00000303372.7:p.Pro296Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | Meckel syndrome, type 8 |
germline
|
Detail |
|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | Joubert syndrome 24 |
germline
|
Detail |
|
Uncertain significance
|
2021-12-19 | criteria provided, single submitter | Familial aplasia of the vermis,Meckel-Gruber syndrome |
germline
|
Detail |
|
Uncertain significance
|
2021-12-19 | criteria provided, single submitter | Familial aplasia of the vermis,Meckel-Gruber syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) AND Meckel syndrome, type 8 | ClinVar | Detail |
| NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) AND Joubert syndrome 24 | ClinVar | Detail |
| NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) AND multiple conditions | ClinVar | Detail |
| NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) AND multiple conditions | 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
- rs750458642 dbSNP
- Genome
- hg38
- Position
- chr12:123,688,173-123,688,173
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121392
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6475550283379465E-5
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