Variant (rsID / SNP)

rs201904771

rs201904771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INVS. Location: chromosome 9, position 103,055,279. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

INVSUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:103055279
Cytoband: 9q31.1
HGVS: NM_014425.5(INVS):c.2740C>T (p.Arg914Cys)
Allele change: Missense_R914C

Associated conditions / phenotypes

Nephronophthisis

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.