chr19:1220395:G>C Detail (hg38) (STK11)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:1,220,394-1,220,394 View the variant detail on this assembly version. |
hg38 | chr19:1,220,395-1,220,395 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000455.4:c.487G>C | NP_000446.1:p.Gly163Arg |
Ensemble | ENST00000326873.12:c.487G>C | ENST00000326873.12:p.Gly163Arg |
ENST00000585465.3:c.487G>C | ENST00000585465.3:p.Gly163Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-04-13 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000455.5(STK11):c.487G>C (p.Gly163Arg) AND Hereditary cancer-predisposing syndrome | 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
- -
- dbSNP
- rs730881972 dbSNP
- Genome
- hg38
- Position
- chr19:1,220,395-1,220,395
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser