NM_004380.3(CREBBP):c.6402C>G (p.His2134Gln) AND CREBBP-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003427873.5
Allele description [Variation Report for NM_004380.3(CREBBP):c.6402C>G (p.His2134Gln)]
NM_004380.3(CREBBP):c.6402C>G (p.His2134Gln)
Condition(s)
- Name:
- CREBBP-related disorder
- Synonyms:
- CREBBP-related condition; CREBBP-Related Disorders
- Identifiers:
-
Plant invertase/pectin methylesterase inhibitor superfamily protein [Arabidopsis...
Plant invertase/pectin methylesterase inhibitor superfamily protein [Arabidopsis thaliana]gi|42570023|ref|NP_671853.2|Protein
-
NT5M [Nestor notabilis]
NT5M [Nestor notabilis]Gene ID:104413208Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024