Variant (rsID / SNP)

rs201884120

rs201884120 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RTTN. Location: chromosome 18, position 67,872,503. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RTTNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:67872503
Cytoband: 18q22.2
HGVS: NM_173630.4(RTTN):c.80G>A (p.Cys27Tyr)
Allele change: Silent

Associated conditions / phenotypes

MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES

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.