Variant (rsID / SNP)

rs146905561

rs146905561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRND. Location: chromosome 2, position 233,392,983. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CHRNDUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:233392983
Cytoband: 2q37.1
HGVS: NM_000751.3(CHRND):c.255C>A (p.Asp85Glu)
Allele change: Missense_D70E

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.