Variant (rsID / SNP)

rs180979987

rs180979987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHKB. Location: chromosome 22, position 51,020,762. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CHKBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:51020762
Cytoband: 22q13.33
HGVS: NM_005198.5(CHKB):c.249C>T (p.Phe83=)
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.