Variant (rsID / SNP)

rs146064714

rs146064714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTTP. Location: chromosome 4, position 100,543,913. Clinical significance in the table: Pathogenic.

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Reference-table entries

MTTPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:100543913
Cytoband: 4q23
HGVS: NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)
Allele change: Nonsense_G865X

Associated conditions / phenotypes

Abetalipoproteinaemia

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.