Variant (rsID / SNP)

rs147941846

rs147941846 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CASQ2. Location: chromosome 1, position 116,311,069. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CASQ2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:116311069
Cytoband: 1p13.1
HGVS: NM_001232.4(CASQ2):c.94G>A (p.Asp32Asn)
Allele change: Missense_D32N

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.