Variant (rsID / SNP)

rs103612

rs103612 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NUP214. Location: chromosome 9, position 134,020,092. The table records no clinical significance for this variant.

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Reference-table entries

NUP214Not classified

Variant type: missense_variant
Chromosome / position: 9:134020092
HGVS: NM_005085.4,c.1720C>T,p.Pro574Ser
Allele change: Missense_P574S

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.