Variant (rsID / SNP)

rs146976883

rs146976883 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TOR1AIP1. Location: chromosome 1, position 179,851,707. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TOR1AIP1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:179851707
Cytoband: 1q25.2
HGVS: NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala)
Allele change: Missense_P24A

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.