Haplotype with homozygous deficiency FH4
Phenotype Details
- Phene ID
- 3770
- Name
- Haplotype with homozygous deficiency FH4
- Phene Name
- N/A
- OMIA ID
- 1960
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2015
Molecular Genetics
Missense mutatiopn: c.949T>C, p.W317R (11,131,497 bp; rs110793536; UMD3.1 assembly) in SUGT1 (Pausch et al., 2015)