chr1:1168115:C>A Detail (hg19) (B3GALT6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:1,168,115-1,168,115 |
| hg38 | chr1:1,232,735-1,232,735 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_080605.3:c.457C>A | NP_542172.2:p.Leu153Ile |
| Ensemble | ENST00000379198.5:c.457C>A | ENST00000379198.5:p.Leu153Ile |
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 |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-01-18 | criteria provided, single submitter | spondyloepimetaphyseal dysplasia with joint laxity,Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
germline
|
Detail |
|
Benign
|
2024-01-18 | criteria provided, single submitter | spondyloepimetaphyseal dysplasia with joint laxity,Ehlers-Danlos syndrome, spondylodysplastic type, 2 |
germline
|
Detail |
|
Benign
|
2020-07-20 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2019-08-03 | criteria provided, single submitter | B3GALT6-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) AND multiple conditions | ClinVar | Detail |
| NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) AND multiple conditions | ClinVar | Detail |
| NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) AND not provided | ClinVar | Detail |
| NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) AND B3GALT6-related disorder | 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
- rs142820961 dbSNP
- Genome
- hg19
- Position
- chr1:1,168,115-1,168,115
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 7920
- 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)
- 102556
- Allele Counts in All Race (ExAC)
- 102
- Heterozygous Counts in All Race (ExAC)
- 100
- Homozygous Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 9.945785717071648E-4
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