chr12:25245346:G>A Detail (hg38) (KRAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:25,398,280-25,398,280 View the variant detail on this assembly version. |
hg38 | chr12:25,245,346-25,245,346 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004985.4:c.39C>T | NP_004976.2:p.Gly13= |
NM_033360.3:c.39C>T | NP_203524.1:p.Gly13= | |
Ensemble | ENST00000557334.6:c.39C>T | ENST00000557334.6:p.Gly13= |
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 |
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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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2011-10-12 | criteria provided, single submitter | Non-small cell lung carcinoma |
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Detail |
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no assertion criteria provided | not provided |
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Detail | |
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2022-07-29 | no assertion criteria provided | Prostate cancer, hereditary, 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.321 | Non-small cell lung carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_004985.5(KRAS):c.39C>T (p.Gly13=) AND Non-small cell lung carcinoma | ClinVar | Detail |
NM_004985.5(KRAS):c.39C>T (p.Gly13=) AND not provided | ClinVar | Detail |
NM_004985.5(KRAS):c.39C>T (p.Gly13=) AND Prostate cancer, hereditary, 1 | 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
- rs397517040 dbSNP
- Genome
- hg38
- Position
- chr12:25,245,346-25,245,346
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 7994
- 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)
- 101766
- 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)
- 9.82646463455378E-6
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