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Variant (rsID / SNP)

rs2289080

CHRNDCHRNG

rs2289080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRND, CHRNG. Location: chromosome 2, position 233,406,178. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CHRNDBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:233406178
Cytoband
2q37.1
HGVS
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr)
Allele change
Missense_A149T

Associated conditions / phenotypes

Autosomal recessive multiple pterygium syndrome|Congenital Myasthenic Syndrome, Dominant/Recessive|Lethal multiple pterygium syndrome

Public references

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