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Gene entry

FBLN5

fibulin 5

Chromosome
14
Cytoband
14q32.12
Variants (rsID)
35

FBLN5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q32.12). Its official name is “fibulin 5”. The reference table lists 35 variants (rsID) for this gene.

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Clinically classified variants

8 reference-table entries with clinical significance.

  • rs200178859Conflicting interpretationssingle nucleotide variantCutis laxa|Macular degeneration, age-related, 3
  • rs61734479Conflicting interpretationssingle nucleotide variantMacular degeneration, age-related, 3|Cutis laxa|Charcot-Marie-Tooth disease, demyelinating, IIA 1H
  • rs80338765Conflicting interpretationssingle nucleotide variantCutis laxa, autosomal recessive, type 1A|Cutis laxa|Macular degeneration, age-related, 3
  • rs121434299Uncertain significancesingle nucleotide variantMacular degeneration, age-related, 3
  • rs121434300Uncertain significancesingle nucleotide variantMacular degeneration, age-related, 3
  • rs149396611Uncertain significancesingle nucleotide variant
  • rs28939073Uncertain significancesingle nucleotide variantMacular degeneration, age-related, 3|Cutis laxa|See cases
  • rs2267989Not classifiedmissense_variant

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.