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Variant (rsID / SNP)

rs199922550

GMPPB

rs199922550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GMPPB. Location: chromosome 3, position 49,759,280. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GMPPBLikely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:49759280
Cytoband
3p21.31
HGVS
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)
Allele change
Missense_V330I

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2T|Muscular dystrophy-dystroglycanopathy|Inborn genetic diseases|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14|Autosomal recessive limb-girdle muscular dystrophy type 2T|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Public references

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