Variant (rsID / SNP)

rs138120231

rs138120231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SBF2. Location: chromosome 11, position 9,879,906. 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: 11:9879906
Cytoband: 11p15.4
HGVS: NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser)
Allele change: Missense_C656S

Associated conditions / phenotypes

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