Variant (rsID / SNP)

rs28942110

rs28942110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SAR1B. Location: chromosome 5, position 133,942,700. Clinical significance in the table: Pathogenic.

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Reference-table entries

SAR1BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:133942700
Cytoband: 5q31.1
HGVS: NM_016103.4(SAR1B):c.537T>A (p.Ser179Arg)
Allele change: Missense_S179R

Associated conditions / phenotypes

Chylomicron retention disease

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.