Variant (rsID / SNP)

rs148187321

rs148187321 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SBF2. Location: chromosome 11, position 10,024,211. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SBF2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:10024211
Cytoband: 11p15.4
HGVS: NM_030962.4(SBF2):c.645T>C (p.Phe215=)
Allele change: Synonymous_F215F

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B2

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.