Variant (rsID / SNP)

rs143976273

rs143976273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIN. Location: chromosome 14, position 51,224,552. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NINUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:51224552
Cytoband: 14q22.1
HGVS: NM_020921.4(NIN):c.3196G>A (p.Val1066Ile)
Allele change: Missense_V1066I

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.