Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs2236654

IGHMBP2

rs2236654 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,704,028. Clinical significance in the table: Benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

IGHMBP2Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
11:68704028
Cytoband
11q13.3
HGVS
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)
Allele change
Missense_R694W

Associated conditions / phenotypes

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