Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200079527

IGHMBP2

rs200079527 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,685,216. Clinical significance in the table: Uncertain significance.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

IGHMBP2Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
11:68685216
Cytoband
11q13.3
HGVS
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu)
Allele change
Missense_K309E

Associated conditions / phenotypes

Charcot-Marie-Tooth disease|Autosomal recessive distal spinal muscular atrophy 1|Charcot-Marie-Tooth disease axonal type 2S

Public references

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