Variant (rsID / SNP)
rs727503158
rs727503158 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MARVELD2. Location: chromosome 5, position 68,716,271. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MARVELD2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:68716271
- Cytoband
- 5q13.2
- HGVS
- NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met)
- Allele change
- Missense_I353M
Associated conditions / phenotypes
Nonsyndromic Hearing Loss, Recessive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.