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Variant (rsID / SNP)

rs148939701

CHRND

rs148939701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRND. Location: chromosome 2, position 233,399,868. 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
2:233399868
Cytoband
2q37.1
HGVS
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)
Allele change
Missense_R452H

Associated conditions / phenotypes

Lethal multiple pterygium syndrome|Congenital myasthenic syndrome

Public references

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