chr9:34648350:T>C Detail (hg19) (GALT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:34,648,350-34,648,350 |
| hg38 | chr9:34,648,353-34,648,353 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000155.3:c.584T>C | NP_000146.2:p.Leu195Pro |
| NM_001258332.1:c.257T>C | NP_001245261.1:p.Leu86Pro | |
| Ensemble | ENST00000378842.8:c.584T>C | ENST00000378842.8:p.Leu195Pro |
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
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2024-01-26 | criteria provided, multiple submitters, no conflicts | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-06-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2017-03-17 | no assertion criteria provided | galactosemia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.375 | Classical galactosemia | NA | CLINVAR | Detail | |
| 0.375 | Classical galactosemia | Samples (n = 243) submitted for confirmatory testing for classical galactosaemia... | BeFree | 17876724 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000155.4(GALT):c.584T>C (p.Leu195Pro) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltra... | ClinVar | Detail |
| NM_000155.4(GALT):c.584T>C (p.Leu195Pro) AND not provided | ClinVar | Detail |
| NM_000155.4(GALT):c.584T>C (p.Leu195Pro) AND Galactosemia | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simul... | 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
- rs111033728 dbSNP
- Genome
- hg19
- Position
- chr9:34,648,350-34,648,350
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121400
- Allele Counts in All Race (ExAC)
- 10
- Heterozygous Counts in All Race (ExAC)
- 10
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.237232289950576E-5
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