chr12:101770518:C>T Detail (hg38) (GNPTAB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,164,296-102,164,296 View the variant detail on this assembly version. |
| hg38 | chr12:101,770,518-101,770,518 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024312.4:c.1001G>A | NP_077288.2:p.Arg334Gln |
| Ensemble | ENST00000299314.12:c.1001G>A | ENST00000299314.12:p.Arg334Gln |
| ENST00000549940.5:c.1001G>A | ENST00000549940.5:p.Arg334Gln |
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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Pseudo-Hurler polydystrophy |
unknown
|
Detail | |
|
Pathogenic
|
2024-01-26 | criteria provided, single submitter | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
|
Detail |
|
Pathogenic
|
2024-01-26 | criteria provided, single submitter | Pseudo-Hurler polydystrophy,Mucolipidosis type II |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.480 | Pseudo-Hurler polydystrophy | NA | CLINVAR | Detail | |
| 0.441 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln) AND Pseudo-Hurler polydystrophy | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln) AND multiple conditions | ClinVar | Detail |
| NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln) AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | 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
- rs281864970 dbSNP
- Genome
- hg38
- Position
- chr12:101,770,518-101,770,518
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8622
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120984
- 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)
- 8.265555775970376E-6
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