| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
7
|
Noonan syndrome
|
aka c.770C>T (p.Ser257Leu)
| ClinVar
|
| Risk
|
rs80338796(G;G) rs80338796(T;T) |
| Alt
|
rs80338796(G;G) rs80338796(T;T) |
| Reference
|
Rs80338796(C;C) |
| Significance |
Other |
| Disease |
Noonan syndrome 5 LEOPARD syndrome 2 Noonan syndrome with multiple lentigines Rasopathy Noonan syndrome not provided Adenocarcinoma of lung Adenocarcinoma of stomach Malignant melanoma of skin Colorectal Neoplasms |
| Variation | info |
|---|
| Gene |
RAF1 |
| CLNDBN |
Noonan syndrome 5 LEOPARD syndrome 2 Noonan syndrome with multiple lentigines Rasopathy Noonan syndrome not provided Adenocarcinoma of lung Adenocarcinoma of stomach Malignant melanoma of skin Colorectal Neoplasms |
| Reversed |
1 |
| HGVS |
NC_000003.11:g.12645699G>A; NC_000003.11:g.12645699G>C |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000014985.25, RCV000014986.23, RCV000020509.1, RCV000149826.4, RCV000157426.3, RCV000157685.1, RCV000418940.1, RCV000428775.1, RCV000435984.1, RCV000436233.1, RCV000417902.1, RCV000421150.1, RCV000428540.1, RCV000438346.1, |
[PMID 17603483] Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
