Variant (rsID / SNP)

rs61750974

rs61750974 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTTP. Location: chromosome 4, position 100,512,392. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MTTPBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:100512392
Cytoband: 4q23
HGVS: NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)
Allele change: Missense_V168I

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.