Variant (rsID / SNP)
rs7135542
rs7135542 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP6V0A2. Location: chromosome 12, position 124,229,429. Clinical significance in the table: Benign.
Reference-table entries
ATP6V0A2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:124229429
- Cytoband
- 12q24.31
- HGVS
- NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=)
- Allele change
- Synonymous_N505N
Associated conditions / phenotypes
Cutis laxa with osteodystrophy|Wrinkly skin syndrome|ALG9 congenital disorder of glycosylation
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.