Variant (rsID / SNP)

rs2099489

rs2099489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNG. Location: chromosome 2, position 233,410,294. Clinical significance in the table: Benign.

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Reference-table entries

CHRNGBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:233410294
Cytoband: 2q37.1
HGVS: NM_005199.5(CHRNG):c.1422C>T (p.Arg474=)
Allele change: Synonymous_R474R

Associated conditions / phenotypes

Autosomal recessive multiple pterygium 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.