chr12:25380285:G>A Detail (hg19) (KRAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:25,380,285-25,380,285 |
hg38 | chr12:25,227,351-25,227,351 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004985.4:c.173C>T | NP_004976.2:p.Thr58Ile |
NM_033360.3:c.173C>T | NP_203524.1:p.Thr58Ile | |
Ensemble | ENST00000256078.10:c.173C>T | ENST00000256078.10:p.Thr58Ile |
Summary
MGeND
Clinical significance |
![]() |
Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
2020/04/20 | pyloric antrum |
![]() |
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2022-04-14 | criteria provided, multiple submitters, no conflicts | Noonan syndrome 3 |
![]() |
Detail |
![]() |
2017-07-13 | criteria provided, single submitter | not provided |
![]() |
Detail |
![]() |
2017-04-03 | reviewed by expert panel | Noonan syndrome |
![]() |
Detail |
![]() |
2022-04-04 | criteria provided, single submitter | RASopathy |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.440 | Noonan syndrome 3 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) AND Noonan syndrome 3 | ClinVar | Detail |
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) AND not provided | ClinVar | Detail |
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) AND Noonan syndrome | ClinVar | Detail |
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) AND RASopathy | 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
- rs104894364 dbSNP
- Genome
- hg19
- Position
- chr12:25,380,285-25,380,285
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser