Variant (rsID / SNP)
rs74867235
rs74867235 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA7. Location: chromosome 12, position 56,092,668. Clinical significance in the table: Benign.
Reference-table entries
ITGA7Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:56092668
- Cytoband
- 12q13.2
- HGVS
- NM_002206.3(ITGA7):c.824G>A (p.Arg275His)
- Allele change
- Missense_R275H
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.