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Variant (rsID / SNP)

rs761285505

SBF2

rs761285505 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SBF2. Location: chromosome 11, position 10,215,461. 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
11:10215461
Cytoband
11p15.4
HGVS
NM_030962.4(SBF2):c.129G>A (p.Gln43=)
Allele change
Synonymous_Q43Q

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.