Variant (rsID / SNP)

rs2274955

rs2274955 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TOR1AIP1. Location: chromosome 1, position 179,883,190. Clinical significance in the table: Benign.

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Reference-table entries

TOR1AIP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:179883190
Cytoband: 1q25.2
HGVS: NM_015602.4(TOR1AIP1):c.964+1G>A
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2Y

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.