Variant (rsID / SNP)

rs149690630

rs149690630 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TOR1AIP1. Location: chromosome 1, position 179,886,769. Clinical significance in the table: Likely benign.

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Reference-table entries

TOR1AIP1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:179886769
Cytoband: 1q25.2
HGVS: NM_015602.4(TOR1AIP1):c.1147G>A (p.Asp383Asn)
Allele change: Missense_D384N

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.