Variant (rsID / SNP)

rs77822399

rs77822399 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,703,887. 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: 11:68703887
Cytoband: 11q13.3
HGVS: NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile)
Allele change: Missense_V647I

Associated conditions / phenotypes

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

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.