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Variant (rsID / SNP)

rs117061430

IGHMBP2

rs117061430 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,673,601. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

IGHMBP2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:68673601
Cytoband
11q13.3
HGVS
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)
Allele change
Missense_Q51E

Associated conditions / phenotypes

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

Public references

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