Variant (rsID / SNP)

rs117187003

rs117187003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA7. Location: chromosome 19, position 1,057,343. Clinical significance in the table: Likely benign.

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Reference-table entries

ABCA7Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:1057343
Cytoband: 19p13.3
HGVS: NM_019112.4(ABCA7):c.4795G>A (p.Val1599Met)
Allele change: Missense_V1599M

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.