Variant (rsID / SNP)

rs202182978

rs202182978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACSF3. Location: chromosome 16, position 89,167,117. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ACSF3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:89167117
Cytoband: 16q24.3
HGVS: NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)
Allele change: Missense_R10W

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.