Variant (rsID / SNP)

rs201253231

rs201253231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RTTN. Location: chromosome 18, position 67,684,763. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RTTNConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 18:67684763
Cytoband: 18q22.2
HGVS: NM_173630.4(RTTN):c.6301T>C (p.Cys2101Arg)
Allele change: Missense_C1189R

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.