Variant (rsID / SNP)

rs3027884

rs3027884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HCFC1. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HCFC1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)
Allele change: Missense_T958A

Associated conditions / phenotypes

Methylmalonic acidemia with homocystinuria, type cblX

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.