Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs71421651

CHRNG

rs71421651 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNG. Location: chromosome 2, position 233,410,388. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CHRNGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:233410388
Cytoband
2q37.1
HGVS
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser)
Allele change
Missense_P506S

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.