Variant (rsID / SNP)

rs10749291

rs10749291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SFXN4. Location: chromosome 10, position 120,920,588. Clinical significance in the table: Benign.

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Reference-table entries

SFXN4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:120920588
Cytoband: 10q26.11
HGVS: NM_213649.2(SFXN4):c.258A>G (p.Gln86=)
Allele change: Synonymous_Q86Q

Associated conditions / phenotypes

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis 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.