chr6:31860117:G>A Detail (hg38) (NEU1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:31,827,894-31,827,894 View the variant detail on this assembly version. |
| hg38 | chr6:31,860,117-31,860,117 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000434.3:c.946C>T | NP_000425.1:p.Pro316Ser |
| Ensemble | ENST00000375631.5:c.946C>T | ENST00000375631.5:p.Pro316Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2002-01-01 | no assertion criteria provided | Sialidosis type 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Sialidosis, Type I | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000434.4(NEU1):c.946C>T (p.Pro316Ser) AND Sialidosis type 1 | ClinVar | Detail |
| NA | 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
- rs104893979 dbSNP
- Genome
- hg38
- Position
- chr6:31,860,117-31,860,117
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser