NM_000751.3(CHRND):c.1235G>A (p.Arg412Lys) AND Lethal multiple pterygium syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001881846.4
Allele description [Variation Report for NM_000751.3(CHRND):c.1235G>A (p.Arg412Lys)]
NM_000751.3(CHRND):c.1235G>A (p.Arg412Lys)
Condition(s)
-
cytochrome b, partial (mitochondrion) [Hypotaenidia sylvestris]
cytochrome b, partial (mitochondrion) [Hypotaenidia sylvestris]gi|459377106|gb|AGG58757.1|Protein
-
Gene rich cluster, C10 gene [Mus musculus]
Gene rich cluster, C10 gene [Mus musculus]gi|13543002|gb|AAH05683.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024