chr12:101780193:TT> Detail (hg38) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,173,971-102,173,972 |
| hg38 | chr12:101,780,193-101,780,194 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.729_730delAA | NP_077288.2:p.Lys244AsnfsTer10 |
| Ensemble | ENST00000299314.12:c.729_730delAA | ENST00000299314.12:p.Lys244AsnfsTer10 |
| ENST00000549940.5:c.729_730delAA | ENST00000549940.5:p.Lys244AsnfsTer10 |
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
|
2013-01-21 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-01-14 | criteria provided, single submitter | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
|
Detail |
|
Pathogenic
|
2023-01-14 | criteria provided, single submitter | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.441 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs) AND not provided | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs) AND multiple conditions | 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
- rs398124400 dbSNP
- Genome
- hg38
- Position
- chr12:101,780,193-101,780,194
- Variant Type
- snv
- Reference Allele
- TT
- Alternative Allele
- -
Genome browser