chr9:34648421:C>G Detail (hg38) (GALT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:34,648,418-34,648,418 View the variant detail on this assembly version. |
| hg38 | chr9:34,648,421-34,648,421 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000155.3:c.652C>G | NP_000146.2:p.Leu218Val |
| NM_001258332.1:c.325C>G | NP_001245261.1:p.Leu109Val | |
| Ensemble | ENST00000378842.8:c.652C>G | ENST00000378842.8:p.Leu218Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2017-10-02 | criteria provided, single submitter | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
unknown
|
Detail |
|
Uncertain significance
|
2015-09-25 | criteria provided, single submitter | not provided |
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.652C>G (p.Leu218Val) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltra... | ClinVar | Detail |
| NM_000155.4(GALT):c.652C>G (p.Leu218Val) AND not provided | 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
- rs2070075 dbSNP
- Genome
- hg38
- Position
- chr9:34,648,421-34,648,421
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser