chr12:102179792:T>C Detail (hg19) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,179,792-102,179,792 |
| hg38 | chr12:101,786,014-101,786,014 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.569A>G | NP_077288.2:p.Asp190Gly |
| Ensemble | ENST00000549940.5:c.569A>G | ENST00000549940.5:p.Asp190Gly |
| ENST00000299314.12:c.569A>G | ENST00000299314.12:p.Asp190Gly |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2022-09-13 | criteria provided, single submitter | Mucolipidosis type II,Pseudo-Hurler polydystrophy |
germline
|
Detail |
|
Uncertain significance
|
2022-09-13 | criteria provided, single submitter | Mucolipidosis type II,Pseudo-Hurler polydystrophy |
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.569A>G (p.Asp190Gly) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.569A>G (p.Asp190Gly) 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
- -
- Genome
- hg19
- Position
- chr12:102,179,792-102,179,792
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8384
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1927480916030534E-4
- Chromosome Counts in All Race (ExAC)
- 117870
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.483922965979469E-6
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