Variant (rsID / SNP)

rs188588431

rs188588431 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SBF2. Location: chromosome 11, position 10,014,637. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SBF2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:10014637
Cytoband: 11p15.4
HGVS: NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln)
Allele change: Missense_R356Q

Associated conditions / phenotypes

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

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.