Variant (rsID / SNP)

rs143377110

rs143377110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBLN1. Location: chromosome 22, position 45,972,941. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FBLN1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:45972941
Cytoband: 22q13.31
HGVS: NM_006486.3(FBLN1):c.1925G>T (p.Arg642Leu)
Allele change: Missense_R642L

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.