chr12:101830666:T>G Detail (hg38) (GNPTAB)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:102,224,444-102,224,444 View the variant detail on this assembly version. |
hg38 | chr12:101,830,666-101,830,666 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_024312.4:c.10A>C | NP_077288.2:p.Lys4Gln |
Ensemble | ENST00000299314.12:c.10A>C | ENST00000299314.12:p.Lys4Gln |
ENST00000392919.4:c.10A>C | ENST00000392919.4:p.Lys4Gln |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2006-03-01 | no assertion criteria provided | Pseudo-Hurler polydystrophy |
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Detail |
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2012-05-10 | no assertion criteria provided | Mucopolysaccharidosis, MPS-III-A |
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Detail |
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2024-01-25 | criteria provided, multiple submitters, no conflicts | Mucolipidosis type II,Pseudo-Hurler polydystrophy |
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Detail |
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2024-01-25 | criteria provided, multiple submitters, no conflicts | Mucolipidosis type II,Pseudo-Hurler polydystrophy |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.480 | Pseudo-Hurler polydystrophy | NA | CLINVAR | Detail | |
0.120 | mucopolysaccharidosis type IIIA | NA | CLINVAR | Detail | |
0.480 | Pseudo-Hurler polydystrophy | Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurle... | UNIPROT | 16465621 | Detail |
0.017 | Mucolipidoses | The GNPTAB c.10A>C/p.K4Q missense allele results in an intermediate ML II/III... | BeFree | 24045841 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) AND Pseudo-Hurler polydystrophy | ClinVar | Detail |
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) AND Mucopolysaccharidosis, MPS-III-A | ClinVar | Detail |
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) AND multiple conditions | ClinVar | Detail |
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are... | DisGeNET | Detail |
The GNPTAB c.10A>C/p.K4Q missense allele results in an intermediate ML II/III with distinct clini... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs34159654 dbSNP
- Genome
- hg38
- Position
- chr12:101,830,666-101,830,666
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8186
- 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)
- 113324
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.6472768345628464E-5
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