Variant (rsID / SNP)

rs185950214

rs185950214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EHHADH. Location: chromosome 3, position 184,911,267. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EHHADHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:184911267
Cytoband: 3q27.2
HGVS: NM_001966.4(EHHADH):c.919A>G (p.Thr307Ala)
Allele change: Missense_T307A

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.