rs397507520
A SNP in the PTPN11 gene on chromosome 12. Its most notable genotype is C;G: Noonan syndrome
- Gene
- PTPN11
- Location
- Chr 12112,453,279 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;GMost notableBadNoonan syndrome
- G;GGoodcommon in clinvar
- G;TBadNoonan syndrome
On SNPedia: (C;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other PTPN11 SNPs
- rs28933386A;GNoonan syndromeVery important
- rs121918457C;TNoonan syndromeVery important
- rs121918459A;GNoonan syndromeVery important
- rs121918470A;CNoonan syndromeVery important
- rs376607329A;GNoonan syndromeVery important
- rs397507503C;TNoonan syndromeVery important
- rs397507525C;TNoonan syndromeVery important
- rs397507547A;GNoonan syndromeVery important
Notes
From SNPedia
Notes
aka c.417G>C (p.Glu139Asp) and also c.417G>T (p.Glu139Asp)
C;G
See links via main rs-page
G;T
see links via main rs-page
Source and license
Adapted from rs397507520 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.