Variant (rsID / SNP)

rs28462216

rs28462216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MESP2. Location: chromosome 15, position 90,320,000. Clinical significance in the table: Benign.

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Reference-table entries

MESP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:90320000
Cytoband: 15q26.1
HGVS: NM_001039958.2(MESP2):c.412G>A (p.Val138Met)
Allele change: Missense_V138M

Associated conditions / phenotypes

Spondylocostal dysostosis 2, autosomal recessive

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.