Variant (rsID / SNP)

rs17117883

rs17117883 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA7. Location: chromosome 12, position 56,082,025. Clinical significance in the table: Benign.

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Reference-table entries

ITGA7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:56082025
Cytoband: 12q13.2
HGVS: NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=)
Allele change: Synonymous_S1006S

Associated conditions / phenotypes

Congenital muscular dystrophy due to integrin alpha-7 deficiency

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.