Variant (rsID / SNP)

rs28942109

rs28942109 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SAR1B. Location: chromosome 5, position 133,944,133. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SAR1BPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:133944133
Cytoband: 5q31.1
HGVS: NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn)
Allele change: Missense_D137N

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.