chr9:34647920:G>A Detail (hg19) (GALT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:34,647,920-34,647,920 |
hg38 | chr9:34,647,923-34,647,923 View the variant detail on this assembly version. |
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 |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2021-03-23 | criteria provided, single submitter | not provided |
![]() |
Detail |
![]() |
2022-08-19 | criteria provided, single submitter | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
![]() |
Detail |
![]() |
2022-08-08 | criteria provided, single submitter | not specified |
![]() |
Detail |
![]() |
2023-11-19 | criteria provided, single submitter | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
![]() |
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
- hg19
- Position
- chr9:34,647,920-34,647,920
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser