Variant (rsID / SNP)
rs138886791
rs138886791 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V0A2. Location: chromosome 12, position 124,239,029. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ATP6V0A2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:124239029
- Cytoband
- 12q24.31
- HGVS
- NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)
- Allele change
- Synonymous_C746C
Associated conditions / phenotypes
ALG9 congenital disorder of glycosylation|Cutis laxa with osteodystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.