Variant (rsID / SNP)

rs114540433

rs114540433 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAVIN4. Location: chromosome 9, position 103,348,330. Clinical significance in the table: Likely benign.

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Reference-table entries

CAVIN4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:103348330
Cytoband: 9q31.1
HGVS: NM_001018116.2(CAVIN4):c.692G>A (p.Arg231Lys)
Allele change: Missense_R231K

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.