chr9:34648392:A>C Detail (hg19) (GALT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:34,648,392-34,648,392 |
| hg38 | chr9:34,648,395-34,648,395 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000155.3:c.626A>C | NP_000146.2:p.Tyr209Ser |
| NM_001258332.1:c.299A>C | NP_001245261.1:p.Tyr100Ser | |
| Ensemble | ENST00000378842.8:c.626A>C | ENST00000378842.8:p.Tyr209Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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
|
2022-08-29 | criteria provided, multiple submitters, no conflicts | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
germline
unknown
|
Detail |
|
Likely pathogenic
|
2020-12-28 | 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.626A>C (p.Tyr209Ser) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltra... | ClinVar | Detail |
| NM_000155.4(GALT):c.626A>C (p.Tyr209Ser) 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
- rs111033744 dbSNP
- Genome
- hg19
- Position
- chr9:34,648,392-34,648,392
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser