NM_004415.4(DSP):c.3439C>A (p.Gln1147Lys) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003350692.2
Allele description [Variation Report for NM_004415.4(DSP):c.3439C>A (p.Gln1147Lys)]
NM_004415.4(DSP):c.3439C>A (p.Gln1147Lys)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
glutamate receptor, ionotropic, N-methyl-D-aspartate 3B [Homo sapiens]
glutamate receptor, ionotropic, N-methyl-D-aspartate 3B [Homo sapiens]gi|119589982|gb|EAW69576.1||gnl|WGS |hCP1801636Protein
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ml99g12.x1 Stratagene mouse kidney (#937315) Mus musculus cDNA clone IMAGE:52019...
ml99g12.x1 Stratagene mouse kidney (#937315) Mus musculus cDNA clone IMAGE:520198 3', mRNA sequencegi|4272443|gnl|dbEST|2234273|gb|AI4 .1|Nucleotide
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Mus musculus BAC clone RP24-259F16 from chromosome 13, complete sequence
Mus musculus BAC clone RP24-259F16 from chromosome 13, complete sequencegi|73745965|gb|AC154171.5||gnl|wugs 4-259F16Nucleotide
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Mus musculus adult male hypothalamus cDNA, RIKEN full-length enriched library, c...
Mus musculus adult male hypothalamus cDNA, RIKEN full-length enriched library, clone:A230079H13 product:unclassifiable, full insert sequencegi|26086863|dbj|AK038964.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024