Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs80338765

FBLN5

rs80338765 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBLN5. Location: chromosome 14, position 92,357,580. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FBLN5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:92357580
Cytoband
14q32.12
HGVS
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)
Allele change
Missense_G202R

Associated conditions / phenotypes

Cutis laxa, autosomal recessive, type 1A|Cutis laxa|Macular degeneration, age-related, 3

Public references

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