NM_021954.4(GJA3):c.151G>C (p.Asp51His) AND Cataract 14 multiple types
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001971221.7
Allele description [Variation Report for NM_021954.4(GJA3):c.151G>C (p.Asp51His)]
NM_021954.4(GJA3):c.151G>C (p.Asp51His)
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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Camellia reticulata cultivar Dalicha clone 1 RNA polymerase second largest subunit (RPB2) gene, exons 23 and 24 and partial cdsgi|2814829247|gb|PQ409399.1|Nucleotide
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Camellia reticulata cultivar Chuxiong_Dalicha clone 2 RNA polymerase second larg...
Camellia reticulata cultivar Chuxiong_Dalicha clone 2 RNA polymerase second largest subunit (RPB2) gene, exons 23 and 24 and partial cdsgi|2814829255|gb|PQ409403.1|Nucleotide
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SRP517199 (3)
SRA
-
Homo sapiens ATPase H+ transporting V1 subunit C2 (ATP6V1C2), transcript variant...
Homo sapiens ATPase H+ transporting V1 subunit C2 (ATP6V1C2), transcript variant 2, mRNAgi|87159813|ref|NM_144583.3|Nucleotide
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ABM1 Abm1p [Saccharomyces cerevisiae S288C]
ABM1 Abm1p [Saccharomyces cerevisiae S288C]Gene ID:853572Gene
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Last Updated: Oct 20, 2024