Variant (rsID / SNP)

rs118203962

rs118203962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STRA6. Location: chromosome 15, position 74,481,585. Clinical significance in the table: Pathogenic.

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Reference-table entries

STRA6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:74481585
Cytoband: 15q24.1
HGVS: NM_022369.4(STRA6):c.961A>C (p.Thr321Pro)
Allele change: Missense_T336P

Associated conditions / phenotypes

Matthew-Wood 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.