NM_000152.5(GAA):c.1316T>A (p.Met439Lys) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001782875.4
Allele description [Variation Report for NM_000152.5(GAA):c.1316T>A (p.Met439Lys)]
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homo sapiens paternally expressed 3 (PEG3), transcript variant 23, mRNA
Homo sapiens paternally expressed 3 (PEG3), transcript variant 23, mRNAgi|1616591141|ref|NM_001369734.1|Nucleotide
-
Homo sapiens paternally expressed 3 (PEG3), transcript variant 14, mRNA
Homo sapiens paternally expressed 3 (PEG3), transcript variant 14, mRNAgi|1616593017|ref|NM_001369725.1|Nucleotide
-
CANA1271.rev CANA_Daphnia_pulex_Log50_Library_14 Daphnia pulex cDNA clone CANA12...
CANA1271.rev CANA_Daphnia_pulex_Log50_Library_14 Daphnia pulex cDNA clone CANA1271 3', mRNA sequencegi|168833516|gnl|dbEST|54131840|gb| 188.1|Nucleotide
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Last Updated: Sep 29, 2024