NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter) AND Autosomal recessive osteopetrosis 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003464683.2
Allele description [Variation Report for NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)]
NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)
Condition(s)
-
Chain C, HEMOGLOBIN A (CARBONMONOXY) (ALPHA CHAIN)
Chain C, HEMOGLOBIN A (CARBONMONOXY) (ALPHA CHAIN)gi|442663|pdb|1BBB|CProtein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024