NM_207352.4(CYP4V2):c.267del (p.Leu89_Leu90insTer) AND Bietti crystalline corneoretinal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001780606.4
Allele description [Variation Report for NM_207352.4(CYP4V2):c.267del (p.Leu89_Leu90insTer)]
NM_207352.4(CYP4V2):c.267del (p.Leu89_Leu90insTer)
Condition(s)
-
mitochondrial carnitine/acylcarnitine carrier-like protein [Lycium barbarum]
mitochondrial carnitine/acylcarnitine carrier-like protein [Lycium barbarum]gi|2599348783|ref|XP_060177453.1|Protein
-
S41 family peptidase [Bradyrhizobium sp. C-145]
S41 family peptidase [Bradyrhizobium sp. C-145]gi|2239578550|gnl|PRJNA782308|LRP30 5|gb|UQR63945.1|Protein
-
LOC109735056 [Aegilops tauschii]
LOC109735056 [Aegilops tauschii]Gene ID:109735056Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 16, 2024