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Variant (rsID / SNP)

rs137852665

IGHMBP2

rs137852665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,701,934. Clinical significance in the table: Pathogenic.

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Reference-table entries

IGHMBP2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:68701934
Cytoband
11q13.3
HGVS
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)
Allele change
Missense_E514K

Associated conditions / phenotypes

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

Public references

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