chr12:102190502:CAAA> Detail (hg19) (GNPTAB)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:102,190,502-102,190,505 |
hg38 | chr12:101,796,724-101,796,727 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_024312.4:c.153_156delTTTG | NP_077288.2:p.Phe53IlefsTer29 |
Ensemble | ENST00000549165.1:c.153_156delTTTG | ENST00000549165.1:p.Phe53IlefsTer32 |
ENST00000549940.5:c.153_156delTTTG | ENST00000549940.5:p.Phe53IlefsTer29 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.441 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | NA | CLINVAR | Detail |
Annotation
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
- rs794727302 dbSNP
- Genome
- hg19
- Position
- chr12:102,190,502-102,190,505
- Variant Type
- snv
- Reference Allele
- CAAA
- Alternative Allele
- -
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