Variant (rsID / SNP)

rs34642406

rs34642406 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LARGE1. Location: chromosome 22, position 34,046,598. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LARGE1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:34046598
Cytoband: 22q12.3
HGVS: NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala)
Allele change: Missense_T55A

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6

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.