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Variant (rsID / SNP)

rs141868117

ABCD4

rs141868117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCD4. Location: chromosome 14, position 74,759,920. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCD4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:74759920
Cytoband
14q24.3
HGVS
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)
Allele change
Missense_R251C

Associated conditions / phenotypes

Methylmalonic acidemia with homocystinuria, type cblJ

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.