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rs781999115

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position50319741
GeneHYAL2
is asnp
is mentioned by
dbSNPrs781999115
dbSNP (classic)rs781999115
ClinGenrs781999115
ebirs781999115
HLIrs781999115
Exacrs781999115
Gnomadrs781999115
Varsomers781999115
LitVarrs781999115
Maprs781999115
PheGenIrs781999115
Biobankrs781999115
1000 genomesrs781999115
hgdprs781999115
ensemblrs781999115
geneviewrs781999115
scholarrs781999115
googlers781999115
pharmgkbrs781999115
gwascentralrs781999115
openSNPrs781999115
23andMers781999115
23andMe allrs781999115
SNPshotrs781999115
SNPdbers781999115
MSV3drs781999115
GWAS Ctlgrs781999115
Max Magnitude6.6

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 28081210OA-icon.png]