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Variant (rsID / SNP)

rs200334999

CRPPA

rs200334999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRPPA. Location: chromosome 7, position 16,341,073. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CRPPAUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
7:16341073
Cytoband
7p21.2
HGVS
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe)
Allele change
Missense_L220F

Associated conditions / phenotypes

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

Public references

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