Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141330687

SBF2

rs141330687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SBF2. Location: chromosome 11, position 9,878,045. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SBF2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:9878045
Cytoband
11p15.4
HGVS
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
Allele change
Missense_G775S

Associated conditions / phenotypes

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

Public references

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