Variant (rsID / SNP)
rs375678713
rs375678713 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAR. Location: chromosome 8, position 38,003,670. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
STARConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:38003670
- Cytoband
- 8p11.23
- HGVS
- NM_000349.3(STAR):c.466-5G>A
- Allele change
- Silent
Associated conditions / phenotypes
Congenital lipoid adrenal hyperplasia due to STAR deficency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.