chr9:34647923:G>A Detail (hg38) (GALT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:34,647,920-34,647,920 View the variant detail on this assembly version. |
| hg38 | chr9:34,647,923-34,647,923 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000155.3:c.469G>A | NP_000146.2:p.Val157Ile |
| NM_001258332.1:c.142G>A | NP_001245261.1:p.Val48Ile | |
| Ensemble | ENST00000378842.8:c.469G>A | ENST00000378842.8:p.Val157Ile |
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
|
2021-03-23 | criteria provided, single submitter | not provided |
germline
|
Detail |
Pathogenic
|
2022-08-19 | criteria provided, single submitter | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
germline
|
Detail |
|
Uncertain significance
|
2022-08-08 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Uncertain significance
|
2023-11-19 | criteria provided, single submitter | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000155.4(GALT):c.469G>A (p.Val157Ile) AND not provided | ClinVar | Detail |
| NM_000155.4(GALT):c.[413C>T;469G>A] AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransfer... | ClinVar | Detail |
| NM_000155.4(GALT):c.469G>A (p.Val157Ile) AND not specified | ClinVar | Detail |
| NM_000155.4(GALT):c.469G>A (p.Val157Ile) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltra... | 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
- rs1173928130 dbSNP
- Genome
- hg38
- Position
- chr9:34,647,923-34,647,923
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser