Variant (rsID / SNP)

rs955592

rs955592 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELMOD3. Location: chromosome 2, position 85,595,818. Clinical significance in the table: Benign.

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Reference-table entries

ELMOD3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:85595818
Cytoband: 2p11.2
HGVS: NM_001135022.2(ELMOD3):c.209C>T (p.Thr70Ile)
Allele change: Missense_T70I

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.