NM_001710.6(CFB):c.1730T>C (p.Val577Ala) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003209247.2
Allele description [Variation Report for NM_001710.6(CFB):c.1730T>C (p.Val577Ala)]
NM_001710.6(CFB):c.1730T>C (p.Val577Ala)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
neuroligin-1 isoform X6 [Mus musculus]
neuroligin-1 isoform X6 [Mus musculus]gi|1907149412|ref|XP_036018844.1|Protein
-
neuroligin-1 isoform X7 [Mus musculus]
neuroligin-1 isoform X7 [Mus musculus]gi|1907149417|ref|XP_036018845.1|Protein
-
neuroligin-1 isoform X3 [Mus musculus]
neuroligin-1 isoform X3 [Mus musculus]gi|1907149403|ref|XP_036018842.1|Protein
-
DNA ligase (DUF1666) [Arabidopsis thaliana]
DNA ligase (DUF1666) [Arabidopsis thaliana]gi|1063692591|ref|NP_001319378.1|Protein
-
PREDICTED: Prunus mume uncharacterized protein ycf45 (LOC103326032), transcript ...
PREDICTED: Prunus mume uncharacterized protein ycf45 (LOC103326032), transcript variant X1, mRNAgi|1027096809|ref|XM_008228237.2|Nucleotide
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Last Updated: May 1, 2024