chr7:30058732:>G Detail (hg19) (FKBP14, FKBP14-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:30,058,732-30,058,732 |
| hg38 | chr7:30,019,116-30,019,116 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_017946.3:c.356_357insC | NP_060416.1:p.Glu122ArgfsTer7 |
| NR_046478.1:c.356_357insC | ||
| Ensemble | ENST00000222803.10:c.356_357insC | ENST00000222803.10:p.Glu122ArgfsTer7 |
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 |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2023-04-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2016-02-10 | no assertion criteria provided | congenital muscular dystrophy |
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2024-01-27 | criteria provided, multiple submitters, no conflicts | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
biparental
germline
paternal
unknown
|
Detail |
|
Pathogenic
|
2023-01-11 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_017946.4(FKBP14):c.362dup (p.Glu122fs) AND not provided | ClinVar | Detail |
| NM_017946.4(FKBP14):c.362dup (p.Glu122fs) AND multiple conditions | ClinVar | Detail |
| NM_017946.4(FKBP14):c.362dup (p.Glu122fs) AND Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | ClinVar | Detail |
| NM_017946.4(FKBP14):c.362dup (p.Glu122fs) AND Cardiovascular phenotype | 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
- rs542489955 dbSNP
- Genome
- hg19
- Position
- chr7:30,058,732-30,058,732
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8622
- 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)
- 120612
- Allele Counts in All Race (ExAC)
- 75
- Heterozygous Counts in All Race (ExAC)
- 75
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 6.218286737638046E-4
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