Variant (rsID / SNP)

rs143288344

rs143288344 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCD4. Location: chromosome 14, position 74,753,420. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ABCD4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:74753420
Cytoband: 14q24.3
HGVS: NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln)
Allele change: Missense_R579Q

Associated conditions / phenotypes

Methylmalonic acidemia with homocystinuria, type cblJ

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.