Variant (rsID / SNP)

rs104894090

rs104894090 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAR. Location: chromosome 8, position 38,003,569. Clinical significance in the table: Pathogenic.

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Reference-table entries

STARPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:38003569
Cytoband: 8p11.23
HGVS: NM_000349.3(STAR):c.562C>T (p.Arg188Cys)
Allele change: Missense_R188C

Associated conditions / phenotypes

Congenital lipoid adrenal hyperplasia due to STAR deficency

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.