NM_001943.5(DSG2):c.919C>G (p.Leu307Val) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 22, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000618954.2
Allele description
NM_001943.5(DSG2):c.919C>G (p.Leu307Val)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
signal transducer and activator 5A, partial [Pteronotus psilotis]
signal transducer and activator 5A, partial [Pteronotus psilotis]gi|1049749689|gb|ANY64008.1|Protein
-
Nucleotide Links for Protein (Select 1838744760) (3)
Nucleotide
-
EFTUD2 elongation factor Tu GTP binding domain containing 2 [Homo sapiens]
EFTUD2 elongation factor Tu GTP binding domain containing 2 [Homo sapiens]Gene ID:9343Gene
-
Acidobacteria bacterium REF-24 16S ribosomal RNA gene, partial sequence
Acidobacteria bacterium REF-24 16S ribosomal RNA gene, partial sequencegi|332691688|gb|JF707445.1|Nucleotide
-
beta-1,4-galactosyltransferase 6 isoform X6 [Homo sapiens]
beta-1,4-galactosyltransferase 6 isoform X6 [Homo sapiens]gi|2462561998|ref|XP_054175347.1|Protein
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Last Updated: Feb 20, 2024