Variant (rsID / SNP)

rs141934594

rs141934594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHKB. Location: chromosome 22, position 51,018,815. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHKBConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:51018815
Cytoband: 22q13.33
HGVS: NM_005198.5(CHKB):c.708C>T (p.Val236=)
Allele change: Silent

Associated conditions / phenotypes

Megaconial type congenital muscular dystrophy

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.