Variant (rsID / SNP)

rs75956808

rs75956808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELMOD3. Location: chromosome 2, position 85,604,565. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ELMOD3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:85604565
Cytoband: 2p11.2
HGVS: NM_001135022.2(ELMOD3):c.706G>A (p.Glu236Lys)
Allele change: Missense_E236K

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.