chr10:123276877:G>C Detail (hg19) (FGFR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:123,276,877-123,276,877 |
| hg38 | chr10:121,517,363-121,517,363 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000141.4:c.1040C>G | NP_000132.3:p.Ser347Cys |
| NM_001144916.1:c.695C>G | NP_001138388.1:p.Ser232Cys | |
| NM_001144918.1:c.695C>G | NP_001138390.1:p.Ser232Cys |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
other |
germline
|
MGS000083
(TMGS000166) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2016-09-17 | criteria provided, single submitter | Crouzon syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2017-01-01 | criteria provided, single submitter | Hypertelorism,hydrocephalus |
unknown
|
Detail |
|
Likely pathogenic
|
2017-01-01 | criteria provided, single submitter | Hypertelorism,hydrocephalus |
unknown
|
Detail |
|
Pathogenic
|
2023-04-12 | criteria provided, single submitter | FGFR2-related craniosynostosis |
germline
|
Detail |
|
Pathogenic
|
2023-04-06 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Pfeiffer syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.255 | Craniofacial Dysostosis | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) AND Crouzon syndrome | ClinVar | Detail |
| NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) AND multiple conditions | ClinVar | Detail |
| NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) AND multiple conditions | ClinVar | Detail |
| NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) AND FGFR2-related craniosynostosis | ClinVar | Detail |
| NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) AND not provided | ClinVar | Detail |
| NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) AND Pfeiffer 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
- rs121918494 dbSNP
- Genome
- hg19
- Position
- chr10:123,276,877-123,276,877
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser