Variant (rsID / SNP)

rs28939073

rs28939073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBLN5. Location: chromosome 14, position 92,343,965. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FBLN5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:92343965
Cytoband: 14q32.12
HGVS: NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)
Allele change: Missense_R351W

Associated conditions / phenotypes

Macular degeneration, age-related, 3|Cutis laxa|See cases

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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