Variant (rsID / SNP)
rs72773422
rs72773422 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MARVELD2. Location: chromosome 5, position 68,716,110. 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
- 5:68716110
- Cytoband
- 5q13.2
- HGVS
- NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)
- Allele change
- Missense_L300M
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 49
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.