Variant (rsID / SNP)

rs587777641

rs587777641 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPIHBP1. Location: chromosome 8, position 144,297,169. Clinical significance in the table: Pathogenic.

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Reference-table entries

GPIHBP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:144297169
Cytoband: 8q24.3
HGVS: NM_178172.6(GPIHBP1):c.331A>C (p.Thr111Pro)
Allele change: Missense_T111P

Associated conditions / phenotypes

Hyperlipoproteinemia, type 1D

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.