chr9:34649499:C>T Detail (hg19) (GALT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:34,649,499-34,649,499 |
| hg38 | chr9:34,649,502-34,649,502 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000155.3:c.997C>T | NP_000146.2:p.Arg333Trp |
| NM_001258332.1:c.670C>T | NP_001245261.1:p.Arg224Trp | |
| Ensemble | ENST00000378842.8:c.997C>T | ENST00000378842.8:p.Arg333Trp |
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
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
|
2024-01-30 | criteria provided, multiple submitters, no conflicts | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-08-05 | 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 | We characterized two novel mutations of the galactose-1-phosphate uridyltransfer... | BeFree | 7550229 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000155.4(GALT):c.997C>T (p.Arg333Trp) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltra... | ClinVar | Detail |
| NM_000155.4(GALT):c.997C>T (p.Arg333Trp) AND not provided | ClinVar | Detail |
| NM_000155.4(GALT):c.997C>T (p.Arg333Trp) AND Galactosemia | ClinVar | Detail |
| NA | DisGeNET | Detail |
| We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in t... | 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
- rs111033800 dbSNP
- Genome
- hg19
- Position
- chr9:34,649,499-34,649,499
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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)
- 121406
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.118412599047823E-5
Genome browser