Variant (rsID / SNP)

rs2227928

rs2227928 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATR. Location: chromosome 3, position 142,281,612. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ATRBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:142281612
Cytoband: 3q23
HGVS: NM_001184.4(ATR):c.632T>C (p.Met211Thr)
Allele change: Missense_M211T

Associated conditions / phenotypes

Seckel syndrome 1

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.