Variant (rsID / SNP)
rs199476103
rs199476103 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC107, RMRP. Location: chromosome 9, position 35,657,945. Clinical significance in the table: Pathogenic.
Reference-table entries
CCDC107Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:35657945
- Cytoband
- 9p13.3
- HGVS
- NR_003051.3(RMRP):n.71A>G
- Allele change
- Silent
Associated conditions / phenotypes
Metaphyseal dysplasia without hypotrichosis|Metaphyseal chondrodysplasia, McKusick type|Anauxetic dysplasia|Metaphyseal dysplasia without hypotrichosis|Metaphyseal chondrodysplasia, McKusick type|Anauxetic dysplasia 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.