Variant (rsID / SNP)

rs148743497

rs148743497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABHD5. Location: chromosome 3, position 43,743,914. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ABHD5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:43743914
Cytoband: 3p21.33
HGVS: NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu)
Allele change: Missense_R114L

Associated conditions / phenotypes

Triglyceride storage disease with ichthyosis

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.