Variant (rsID / SNP)

rs28910273

rs28910273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATR. Location: chromosome 3, position 142,188,337. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATRBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:142188337
Cytoband: 3q23
HGVS: NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp)
Allele change: Missense_Y2132D

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.