Variant (rsID / SNP)
rs12539174
rs12539174 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRPPA. Location: chromosome 7, position 16,127,297. Clinical significance in the table: Benign.
Reference-table entries
CRPPABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:16127297
- Cytoband
- 7p21.2
- HGVS
- NM_001101426.4(CRPPA):c.*4023C>A
- Allele change
- Silent
Associated conditions / phenotypes
Congenital Muscular Dystrophy, alpha-dystroglycan related
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.