Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs191155989

NPR2

rs191155989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPR2. Location: chromosome 9, position 35,793,054. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NPR2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:35793054
Cytoband
9p13.3
HGVS
NM_003995.4(NPR2):c.649A>T (p.Ile217Phe)
Allele change
Missense_I217F

Associated conditions / phenotypes

Acromesomelic dysplasia 1, Maroteaux type|Acromesomelic dysplasia 1, Maroteaux type|Tall stature-scoliosis-macrodactyly of the great toes syndrome

Public references

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