Variant (rsID / SNP)

rs200089714

rs200089714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,673,577. 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: 11:68673577
Cytoband: 11q13.3
HGVS: NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)
Allele change: Nonsense_R43X

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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