Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs202160208

GMPPB

rs202160208 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GMPPB. Location: chromosome 3, position 49,759,489. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GMPPBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:49759489
Cytoband
3p21.31
HGVS
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
Allele change
Missense_R287Q

Associated conditions / phenotypes

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

Public references

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