Variant (rsID / SNP)

rs114853127

rs114853127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEB. Location: chromosome 2, position 152,499,126. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NEBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:152499126
Cytoband: 2q23.3
HGVS: NM_001164508.2(NEB):c.8335A>G (p.Ile2779Val)
Allele change: Missense_I2779V

Associated conditions / phenotypes

Nemaline myopathy 2

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.