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Variant (rsID / SNP)

rs183141256

CRPPA

rs183141256 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRPPA. Location: chromosome 7, position 16,445,860. 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
single nucleotide variant
Chromosome / position
7:16445860
Cytoband
7p21.2
HGVS
NM_001101426.4(CRPPA):c.360C>T (p.Val120=)
Allele change
Synonymous_V120V

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.