Variant (rsID / SNP)
rs17854601
rs17854601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA7. Location: chromosome 12, position 56,096,884. Clinical significance in the table: Benign.
Reference-table entries
ITGA7Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:56096884
- Cytoband
- 12q13.2
- HGVS
- NM_002206.3(ITGA7):c.285G>T (p.Pro95=)
- Allele change
- Synonymous_P95P
Associated conditions / phenotypes
Congenital muscular dystrophy due to integrin alpha-7 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.