Variant (rsID / SNP)

rs185819537

rs185819537 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEPTIN14. Location: chromosome 7, position 55,912,345. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SEPTIN14Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:55912345
Cytoband: 7p11.2
HGVS: NM_207366.3(SEPTIN14):c.242A>G (p.Lys81Arg)
Allele change: Missense_K81R

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.