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Variant (rsID / SNP)

rs182602770

AGPS

rs182602770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGPS. Location: chromosome 2, position 178,301,795. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AGPSConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:178301795
Cytoband
2q31.2
HGVS
NM_003659.4(AGPS):c.637+13C>T
Allele change
Silent

Associated conditions / phenotypes

Rhizomelic chondrodysplasia punctata type 3

Public references

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