chrX:68049728:T>G Detail (hg19) (EFNB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:68,049,728-68,049,728 |
| hg38 | chrX:68,829,885-68,829,885 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004429.4:c.109T>G | NP_004420.1:p.Trp37Gly |
| Ensemble | ENST00000204961.5:c.109T>G | ENST00000204961.5:p.Trp37Gly |
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
|
2006-06-01 | no assertion criteria provided | craniofrontonasal syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.565 | Craniofrontonasal dysplasia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004429.5(EFNB1):c.109T>G (p.Trp37Gly) AND Craniofrontonasal 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
- rs104894802 dbSNP
- Genome
- hg19
- Position
- chrX:68,049,728-68,049,728
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser