| Geno
|
Mag
|
Summary
|
| (A;C)
|
3
|
Drug response to cetuximab and panitumumab
|
| (C;C)
|
0
|
common in clinvar
|
| (G;G)
|
0
|
common in complete genomics
|
aka c.38G>T (p.Gly13Val)
annotated in ClinVar as a somatic mutation, and also for its PGx association (drug response to cetuximab and panitumumab)
23andMe name for the c.38G>A variant: i5002724
| ClinVar
|
| Risk
|
rs112445441(A;A) Rs112445441(G;G) rs112445441(T;T) |
| Alt
|
rs112445441(A;A) Rs112445441(G;G) rs112445441(T;T) |
| Reference
|
Rs112445441(C;C) |
| Significance |
Drug-response |
| Disease |
Non-small cell lung cancer cetuximab response - Dosage panitumumab response - Dosage Neoplasm of the thyroid gland Colorectal Neoplasms Breast adenocarcinoma Juvenile myelomonocytic leukemia RAS-associated autoimmune leukoproliferative disorder Acute myeloid leukemia Ovarian Neoplasms |
| Variation | info |
|---|
| Gene |
KRAS |
| CLNDBN |
Non-small cell lung cancer cetuximab response - Dosage panitumumab response - Dosage Neoplasm of the thyroid gland Colorectal Neoplasms Breast adenocarcinoma Juvenile myelomonocytic leukemia RAS-associated autoimmune leukoproliferative disorder Acute myeloid leukemia Ovarian Neoplasms |
| Reversed |
0 |
| HGVS |
NC_000012.11:g.25398281C>A; NC_000012.11:g.25398281C>G; NC_000012.11:g.25398281C>T |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000038270.2, RCV000417135.1, RCV000417162.1, RCV000422238.1, RCV000439931.1, RCV000431622.1, RCV000444986.1, RCV000013409.6, RCV000038269.3, RCV000144967.4, RCV000144968.4, RCV000421576.1, RCV000427102.1, RCV000431806.1, RCV000444192.1, |
