Variant (rsID / SNP)

rs3762528

rs3762528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRND. Location: chromosome 2, position 233,396,375. Clinical significance in the table: Benign.

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Reference-table entries

CHRNDBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:233396375
Cytoband: 2q37.1
HGVS: NM_000751.3(CHRND):c.1047+9T>C
Allele change: Silent

Associated conditions / phenotypes

Congenital myasthenic syndrome|Lethal multiple pterygium syndrome

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.