Variant (rsID / SNP)

rs76690064

rs76690064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGHMBP2. Location: chromosome 11, position 68,682,305. Clinical significance in the table: Uncertain significance.

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Reference-table entries

IGHMBP2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:68682305
Cytoband: 11q13.3
HGVS: NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=)
Allele change: Synonymous_A242A

Associated conditions / phenotypes

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.