Variant (rsID / SNP)

rs2228207

rs2228207 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,704,480. Clinical significance in the table: Benign.

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Reference-table entries

IGHMBP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:68704480
Cytoband: 11q13.3
HGVS: NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=)
Allele change: Synonymous_A844A

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

dbSNP
ClinVar
Ensembl
gnomAD

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