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Variant (rsID / SNP)

rs61734479

FBLN5

rs61734479 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBLN5. Location: chromosome 14, position 92,403,294. 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
14:92403294
Cytoband
14q32.12
HGVS
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)
Allele change
Missense_V126M

Associated conditions / phenotypes

Macular degeneration, age-related, 3|Cutis laxa|Charcot-Marie-Tooth disease, demyelinating, IIA 1H

Public references

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