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Variant (rsID / SNP)

rs200178859

FBLN5

rs200178859 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBLN5. Location: chromosome 14, position 92,353,655. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FBLN5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:92353655
Cytoband
14q32.12
HGVS
NM_006329.4(FBLN5):c.621T>C (p.Asp207=)
Allele change
Synonymous_D207D

Associated conditions / phenotypes

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.