Variant (rsID / SNP)

rs202022169

rs202022169 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CELSR2. Location: chromosome 1, position 109,805,568. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CELSR2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:109805568
Cytoband: 1p13.3
HGVS: NM_001408.3(CELSR2):c.4685T>C (p.Ile1562Thr)
Allele change: Missense_I1562T

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.