chr2:46994408:T>A Detail (hg38) (TTC7A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:47,221,547-47,221,547 View the variant detail on this assembly version. |
| hg38 | chr2:46,994,408-46,994,408 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001288955.1:c.895T>A | NP_001275884.1:p.Cys299Ser |
| NM_020458.3:c.895T>A | NP_065191.2:p.Cys299Ser | |
| NM_001288951.1:c.895T>A | NP_001275880.1:p.Cys299Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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
|
2020-06-30 | criteria provided, single submitter | Multiple gastrointestinal atresias |
germline
|
Detail |
|
Uncertain significance
|
2021-03-30 | criteria provided, single submitter | Gastrointestinal defects and immunodeficiency syndrome 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020458.4(TTC7A):c.895T>A (p.Cys299Ser) AND Multiple gastrointestinal atresias | ClinVar | Detail |
| NM_020458.4(TTC7A):c.895T>A (p.Cys299Ser) AND Gastrointestinal defects and immunodeficiency syndrome... | 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
- rs1198449310 dbSNP
- Genome
- hg38
- Position
- chr2:46,994,408-46,994,408
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
Genome browser