Variant (rsID / SNP)
rs77929806
rs77929806 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA7. Location: chromosome 12, position 56,101,328. Clinical significance in the table: Likely benign.
Reference-table entries
ITGA7Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:56101328
- Cytoband
- 12q13.2
- HGVS
- NM_002206.3(ITGA7):c.139G>A (p.Glu47Lys)
- Allele change
- Missense_E47K
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.