Variant (rsID / SNP)

rs55643281

rs55643281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPATA5. Location: chromosome 4, position 123,855,513. Clinical significance in the table: Benign.

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Reference-table entries

SPATA5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:123855513
Cytoband: 4q28.1
HGVS: NM_145207.3(SPATA5):c.767T>C (p.Ile256Thr)
Allele change: Missense_I256T

Associated conditions / phenotypes

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

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.