Variant (rsID / SNP)

rs61734789

rs61734789 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRPPA. Location: chromosome 7, position 16,445,813. Clinical significance in the table: Benign.

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Reference-table entries

CRPPABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:16445813
Cytoband: 7p21.2
HGVS: NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val)
Allele change: Missense_A136V

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

dbSNP
ClinVar
Ensembl
gnomAD

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