Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs797044802

IGHMBP2

rs797044802 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,675,806. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

IGHMBP2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:68675806
Cytoband
11q13.3
HGVS
NM_002180.3(IGHMBP2):c.449+1G>T
Allele change
Silent

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2S|Autosomal dominant distal hereditary motor neuropathy|Peripheral neuropathy

Public references

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