Variant (rsID / SNP)

rs149700171

rs149700171 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFL2. Location: chromosome 14, position 35,182,750. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CFL2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:35182750
Cytoband: 14q13.1
HGVS: NM_138638.5(CFL2):c.21G>A (p.Val7=)
Allele change: Silent

Associated conditions / phenotypes

Nemaline myopathy 7

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.