Variant (rsID / SNP)

rs151220873

rs151220873 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACYP1, NPC2. Location: chromosome 14, position 74,953,134. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ACYP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:74953134
Cytoband: 14q24.3
HGVS: NM_006432.5(NPC2):c.88G>A (p.Val30Met)
Allele change: Missense_V30M

Associated conditions / phenotypes

Brain atrophy|Microcephaly|Seizure|Global developmental delay|Niemann-Pick disease, type C2

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.