NM_004239.4(TRIP11):c.2247A>G (p.Ala749=) AND Achondrogenesis, type IA
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003615119.1
Allele description [Variation Report for NM_004239.4(TRIP11):c.2247A>G (p.Ala749=)]
NM_004239.4(TRIP11):c.2247A>G (p.Ala749=)
Condition(s)
-
Taxonomy Links for Nucleotide (Select 2128614923) (1)
Taxonomy
-
Related Structures (List) for Protein (Select 4757756) (61)
Structure
-
OMIM(Genes) for MedGen (Select 1733656) (1)
OMIM
-
periplasmic divalent cation tolerance protein (cutA) [uncultured marine group II...
periplasmic divalent cation tolerance protein (cutA) [uncultured marine group II/III euryarchaeote KM3_158_G08]gi|663512094|gb|AIF02671.1|Protein
-
midline 2, isoform CRA_a [Homo sapiens]
midline 2, isoform CRA_a [Homo sapiens]gi|119623106|gb|EAX02701.1||gnl|WGS |hCP1887146Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 28, 2024