chr10:121517394:C>G Detail (hg38) (FGFR2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:123,276,908-123,276,908 View the variant detail on this assembly version. |
hg38 | chr10:121,517,394-121,517,394 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001144916.1:c.664G>C | NP_001138388.1:p.Ala222Pro |
NM_001144918.1:c.664G>C | NP_001138390.1:p.Ala222Pro | |
NM_001144915.1:c.742G>C | NP_001138387.1:p.Ala248Pro |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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.1009G>C (p.Ala337Pro) AND Crouzon syndrome | ClinVar | Detail |
NM_000141.5(FGFR2):c.1009G>C (p.Ala337Pro) AND FGFR2-related craniosynostosis | 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
- rs387906676 dbSNP
- Genome
- hg38
- Position
- chr10:121,517,394-121,517,394
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser