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Variant (rsID / SNP)

rs138125827

CHRNG

rs138125827 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNG. Location: chromosome 2, position 233,407,762. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHRNGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:233407762
Cytoband
2q37.1
HGVS
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr)
Allele change
Missense_A259T

Associated conditions / phenotypes

Autosomal recessive multiple pterygium syndrome|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.