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Variant (rsID / SNP)

rs780594709

IGHMBP2

rs780594709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,701,322. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

IGHMBP2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:68701322
Cytoband
11q13.3
HGVS
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)
Allele change
Missense_T493I

Associated conditions / phenotypes

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