Variant (rsID / SNP)

rs78280523

rs78280523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NIN. Location: chromosome 14, position 51,224,551. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NINConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:51224551
Cytoband: 14q22.1
HGVS: NM_020921.4(NIN):c.3197T>A (p.Val1066Asp)
Allele change: Missense_V1066D

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.