Variant (rsID / SNP)

rs2228205

rs2228205 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,675,718. Clinical significance in the table: Likely benign.

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Reference-table entries

IGHMBP2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:68675718
Cytoband: 11q13.3
HGVS: NM_002180.3(IGHMBP2):c.362C>T (p.Ser121Phe)
Allele change: Missense_S121F

Associated conditions / phenotypes

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.