Variant (rsID / SNP)

rs199422220

rs199422220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTTP. Location: chromosome 4, position 100,529,984. 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: 4:100529984
Cytoband: 4q23
HGVS: NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
Allele change: Missense_R540H

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.