Variant (rsID / SNP)

rs115173390

rs115173390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZMPSTE24. Location: chromosome 1, position 40,726,624. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ZMPSTE24Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:40726624
Cytoband: 1p34.2
HGVS: NM_005857.5(ZMPSTE24):c.237C>T (p.Phe79=)
Allele change: Synonymous_F79F

Associated conditions / phenotypes

Lethal tight skin contracture syndrome|Mandibuloacral dysplasia with type B lipodystrophy

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.