NM_021954.4(GJA3):c.522G>A (p.Glu174=) AND Cataract 14 multiple types
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001115051.4
Allele description [Variation Report for NM_021954.4(GJA3):c.522G>A (p.Glu174=)]
NM_021954.4(GJA3):c.522G>A (p.Glu174=)
Condition(s)
- Name:
- Cataract 14 multiple types
- Synonyms:
- Zonular pulverulent cataract 3; CATARACT 14, ZONULAR PULVERULENT; CATARACT 14, NUCLEAR PULVERULENT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011162; MedGen: C1866078; Orphanet: 91492; OMIM: 601885
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MAG: 30S ribosomal protein S6 [Candidatus Terrybacteria bacterium RIFCSPHIGHO2_0...
MAG: 30S ribosomal protein S6 [Candidatus Terrybacteria bacterium RIFCSPHIGHO2_01_FULL_43_35]gi|1088186615|gb|OHA46164.1||gnl|WG R|A2828_00650Protein
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Actaea simplex 26S ribosomal RNA gene, partial sequence
Actaea simplex 26S ribosomal RNA gene, partial sequencegi|1027589175|gb|KU662733.1|Nucleotide
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NADH dehydrogenase subunit 4, partial (mitochondrion) [Pseudemys alabamensis]
NADH dehydrogenase subunit 4, partial (mitochondrion) [Pseudemys alabamensis]gi|482667301|gb|AGK27663.1|Protein
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Homo sapiens cDNA clone IMAGE:4826286
Homo sapiens cDNA clone IMAGE:4826286gi|21961453|gb|BC034795.1|Nucleotide
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RecName: Full=Solute carrier organic anion transporter family member 1A1; AltNam...
RecName: Full=Solute carrier organic anion transporter family member 1A1; AltName: Full=Organic anion-transporting polypeptide 1; Short=OATP-1; AltName: Full=Sodium-independent organic anion transporter 1; AltName: Full=Solute carrier family 21 member 1gi|1171883|sp|P46720.1|SO1A1_RATProtein
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023