Variant (rsID / SNP)

rs191355534

rs191355534 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KPNA7. Location: chromosome 7, position 98,785,958. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KPNA7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:98785958
Cytoband: 7q22.1
HGVS: NM_001145715.3(KPNA7):c.865G>C (p.Val289Leu)
Allele change: Missense_V289L

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.