chr12:102151089:C>G Detail (hg19) (GNPTAB)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:102,151,089-102,151,089 |
hg38 | chr12:101,757,311-101,757,311 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_024312.4:c.3336-1G>C | |
Ensemble | ENST00000299314.12:c.3336-1G>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
![]() ![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2020-09-16 | no assertion criteria provided | Mucolipidosis type II |
![]() ![]() |
Detail |
![]() |
2020-04-20 | criteria provided, single submitter | mucolipidosis |
![]() |
Detail |
![]() |
2021-07-14 | criteria provided, single submitter | Mucolipidosis type II,Pseudo-Hurler polydystrophy |
![]() |
Detail |
![]() |
2021-07-14 | criteria provided, single submitter | Mucolipidosis type II,Pseudo-Hurler polydystrophy |
![]() |
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.3336-1G>C AND Mucolipidosis type II | ClinVar | Detail |
NM_024312.5(GNPTAB):c.3336-1G>C AND Mucolipidosis | ClinVar | Detail |
NM_024312.5(GNPTAB):c.3336-1G>C AND multiple conditions | ClinVar | Detail |
NM_024312.5(GNPTAB):c.3336-1G>C AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs397507562 dbSNP
- Genome
- hg19
- Position
- chr12:102,151,089-102,151,089
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser