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Variant (rsID / SNP)

rs397515398

CRPPA

rs397515398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRPPA. Location: chromosome 7, position 16,445,941. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CRPPAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
Deletion
Chromosome / position
7:16445941
Cytoband
7p21.2
HGVS
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Autosomal recessive limb-girdle muscular dystrophy type 2U

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.