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Variant (rsID / SNP)

rs201733876

CHRND

rs201733876 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRND. Location: chromosome 2, position 233,394,756. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHRNDConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:233394756
Cytoband
2q37.1
HGVS
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)
Allele change
Missense_R228C

Associated conditions / phenotypes

Congenital myasthenic syndrome|Lethal multiple pterygium syndrome|Congenital myasthenic syndrome 3A|Lethal multiple pterygium syndrome|Congenital myasthenic syndrome 3B|Congenital myasthenic syndrome 3C|Congenital myasthenic syndrome 3A

Public references

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