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Variant (rsID / SNP)

rs148641361

ITGA7

rs148641361 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA7. Location: chromosome 12, position 56,088,291. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ITGA7Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:56088291
Cytoband
12q13.2
HGVS
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val)
Allele change
Missense_I765V

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.