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Variant (rsID / SNP)

rs61744487

CRPPA

rs61744487 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRPPA. Location: chromosome 7, position 16,445,874. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CRPPABenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
7:16445874
Cytoband
7p21.2
HGVS
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys)
Allele change
Missense_R116C

Associated conditions / phenotypes

Congenital Muscular Dystrophy, alpha-dystroglycan related|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.