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Variant (rsID / SNP)

rs142336618

GMPPB

rs142336618 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GMPPB. Location: chromosome 3, position 49,761,081. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GMPPBPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:49761081
Cytoband
3p21.31
HGVS
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
Allele change
Missense_D27H

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2T|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|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

Public references

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