rs1546124

This is a 5 prime utr variant variant in the CRISPLD2 gene.

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Research that mentions this SNP (2)

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The CRISPLD2 gene is involved in cleft lip and/or cleft palate in a Chinese population
ReviewXi Shen et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology

This narrative review examines the genetics of cleft lip with or without cleft palate (CLP) and cleft palate only (CP), which affect approximately 1 in 700 to 1 in 2,000 births worldwide. The paper discusses over 300 genes implicated in palatal fusion, with recent discoveries including variants in VAX1, GLI2, ARHGAP29, CRISPLD2, COL21A1, TBX22, ROCK1, GRHL3, and HYAL2. Key rsID associations identified include rs3821949 (MSX1), rs12532 (MSX1), rs17563 (BMP4), rs4783099, rs1546124, and rs16974880. The review emphasizes the multifactorial etiology involving both genetic and environmental factors in embryonic facial development.

Traits studied:AnkyloglossiaCleft lip with or without cleft palate (CLP)Cleft palate only (CP)Corpus callosum agenesisHypodontiaMicrophthalmiaNon-syndromic cleft lip and palateSyndromic cleftsTooth agenesisVan der Woude Syndrome
PubMedDOIMetascience Observatory
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Testing reported associations of genetic risk factors for oral clefts in a large Irish study population
AssociationN=3,351Tonia C. Carter et al.(2010)· Birth Defects Research Part A: Clinical and Molecular Teratology

A large candidate gene study testing associations between nonsyndromic oral clefts and 12 genes (CLPTM1, CRISPLD2, FGFR2, GABRB3, GLI2, IRF6, PTCH1, RARA, RYK, SATB2, SUMO1, TGFA) in an Irish population of 509 cleft lip with or without palate (CLP) cases, 383 cleft palate only cases, and 902 controls. The study confirmed associations with PTCH1, SUMO1, and TGFA as contributing to nonsyndromic oral clefts, with PTCH1 P1315L showing significant association with CLP.

Traits studied:Cleft lip with or without cleft palate (CLP)Cleft palate only (CP)Nonsyndromic oral clefts
PubMedDOIMetascience Observatory

About CRISPLD2

Predicted to enable glycosaminoglycan binding activity. Involved in face morphogenesis. Located in transport vesicle. [provided by Alliance of Genome Resources, Jul 2025]

View all CRISPLD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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