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Variant (rsID / SNP)

rs139967004

SBF2

rs139967004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SBF2. Location: chromosome 11, position 9,850,942. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SBF2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:9850942
Cytoband
11p15.4
HGVS
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys)
Allele change
Missense_S1252C

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.