| Geno
|
Mag
|
Summary
|
| (A;A)
|
6.6
|
Cleft lip and palate; possible heart abnormalities
|
| (A;G)
|
3
|
Carrier of a cleft lip and palate mutation
|
| (G;G)
|
0
|
common/normal
|
rs781999115, also known as c.749C>T, p.Pro250Leu and P250L, represents a very rare variant in the HYAL2 gene on chromosome 3.
Inherited as an autosomal recessive, rs781999115(A), as identified in dbSNP orientation, is reported as leading to cleft palate, also known as cleft lip and palate (CLP), with supporting functional evidence based on animal studies. In addition to bilateral cleft lip and palate, bilateral single palmer creases, lens opacities, staphyloma and myopia were observed, and in one case, an abnormal mitral valve. Another HYAL2 gene mutation was also uncovered, NM_003773.4:c.443A>G, however at this time it lacks a dbSNP rs-id.[PMID 28081210
]
]
