chr12:102158641:GAGTT> Detail (hg19) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,158,641-102,158,645 |
| hg38 | chr12:101,764,863-101,764,867 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.2050_2054delAACTC | NP_077288.2:p.Ser685LysfsTer61 |
| Ensemble | ENST00000299314.12:c.2050_2054delAACTC | ENST00000299314.12:p.Ser685LysfsTer61 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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
|
2012-05-10 | no assertion criteria provided | Mucopolysaccharidosis, MPS-III-A |
not provided
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-01-16 | criteria provided, multiple submitters, no conflicts | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-01-16 | criteria provided, multiple submitters, no conflicts | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-11-03 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
|
Pathogenic
|
2021-12-14 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | mucopolysaccharidosis type IIIA | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) AND Mucopolysaccharidosis, MPS-III-A | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) AND Inborn genetic diseases | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) AND not provided | 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
- rs34901902 dbSNP
- Genome
- hg19
- Position
- chr12:102,158,641-102,158,645
- Variant Type
- snv
- Reference Allele
- GAGTT
- Alternative Allele
- -
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