Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs2307109

FBN2

rs2307109 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN2. Location: chromosome 5, position 127,623,047. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FBN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:127623047
Cytoband
5q23.3
HGVS
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met)
Allele change
Missense_T2278M

Associated conditions / phenotypes

Inborn genetic diseases|Congenital contractural arachnodactyly

Public references

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