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Variant (rsID / SNP)

rs144983062

ITGA7

rs144983062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA7. Location: chromosome 12, position 56,086,993. 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
12:56086993
Cytoband
12q13.2
HGVS
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)
Allele change
Missense_E882K

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.