Variant (rsID / SNP)

rs150786764

rs150786764 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A4. Location: chromosome 4, position 186,067,984. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC25A4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:186067984
Cytoband: 4q35.1
HGVS: NM_001151.4(SLC25A4):c.756G>A (p.Thr252=)
Allele change: Synonymous_T252T

Associated conditions / phenotypes

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 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.