Variant (rsID / SNP)

rs143749139

rs143749139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA7. Location: chromosome 12, position 56,096,885. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ITGA7Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:56096885
Cytoband: 12q13.2
HGVS: NM_002206.3(ITGA7):c.284C>T (p.Pro95Leu)
Allele change: Missense_P95L

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.