Variant (rsID / SNP)

rs2271335

rs2271335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMARCAL1. Location: chromosome 2, position 217,332,751. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SMARCAL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:217332751
Cytoband: 2q35
HGVS: NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=)
Allele change: Synonymous_T742T

Associated conditions / phenotypes

Schimke immuno-osseous dysplasia

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.