NM_000152.5(GAA):c.912C>T (p.Gly304=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002375278.2
Allele description [Variation Report for NM_000152.5(GAA):c.912C>T (p.Gly304=)]
NM_000152.5(GAA):c.912C>T (p.Gly304=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
vif protein [Simian immunodeficiency virus SIV-mnd 2]
vif protein [Simian immunodeficiency virus SIV-mnd 2]gi|27311170|ref|NP_758888.1|Protein
-
References - Basic Neurochemistry
References - Basic Neurochemistry
-
Bacterial alpha-L-rhamnosidase [Bacteroides xylanisolvens XB1A]
Bacterial alpha-L-rhamnosidase [Bacteroides xylanisolvens XB1A]gi|295084109|emb|CBK65632.1|Protein
-
608830 (1)
OMIM
-
RecName: Full=ATP-dependent translocase ABCB1; AltName: Full=ATP-binding cassett...
RecName: Full=ATP-dependent translocase ABCB1; AltName: Full=ATP-binding cassette sub-family B member 1; AltName: Full=Multidrug resistance protein 1; AltName: Full=P-glycoprotein 1; AltName: Full=Phospholipid transporter ABCB1; AltName: CD_antigen=CD243gi|238054374|sp|P08183.3|MDR1_HUMANProtein
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Last Updated: Sep 29, 2024