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Variant (rsID / SNP)

rs373747090

CHRND

rs373747090 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRND. Location: chromosome 2, position 233,399,000. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

CHRNDOther
Clinical significance (as recorded)
no interpretation for the single variant
Variant type
single nucleotide variant
Chromosome / position
2:233399000
Cytoband
2q37.1
HGVS
NM_000751.3(CHRND):c.1319A>G (p.Asp440Gly)
Allele change
Missense_D425V

Associated conditions / phenotypes

Myasthenic Syndrome, Congenital, 1b, Fast-Channel|Multiple Pterygium Syndrome, Lethal Type

Public references

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