NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter) AND Bietti crystalline corneoretinal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 12, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000032525.3
Allele description [Variation Report for NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter)]
NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter)
Condition(s)
-
PREDICTED: Homo sapiens engulfment and cell motility 2 (ELMO2), transcript varia...
PREDICTED: Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant X1, mRNAgi|2217335807|ref|XM_006723854.4|Nucleotide
-
Chain A, stilbene synthase
Chain A, stilbene synthasegi|75765673|pdb|1Z1F|AProtein
-
Homo sapiens phosphoglycerate mutase 1 (brain), mRNA (cDNA clone MGC:87445 IMAGE...
Homo sapiens phosphoglycerate mutase 1 (brain), mRNA (cDNA clone MGC:87445 IMAGE:5262935), complete cdsgi|44890767|gb|BC066959.1|Nucleotide
-
602781215F1 NCI_CGAP_Brn67 Homo sapiens cDNA clone IMAGE:4932267 5', mRNA sequen...
602781215F1 NCI_CGAP_Brn67 Homo sapiens cDNA clone IMAGE:4932267 5', mRNA sequencegi|14166707|gnl|dbEST|8558535|gb|BG 0.1|Nucleotide
-
om56b01.s1 NCI_CGAP_GC4 Homo sapiens cDNA clone IMAGE:1551145 3', mRNA sequence
om56b01.s1 NCI_CGAP_GC4 Homo sapiens cDNA clone IMAGE:1551145 3', mRNA sequencegi|3089907|gnl|dbEST|1665582|gb|AA9 .1|Nucleotide
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Last Updated: Jun 23, 2024