Variant (rsID / SNP)

rs45561437

rs45561437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT2. Location: chromosome 14, position 77,742,382. Clinical significance in the table: Likely benign.

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Reference-table entries

POMT2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:77742382
Cytoband: 14q24.3
HGVS: NM_013382.7(POMT2):c.*1337C>T
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2N

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.