NM_004415.4(DSP):c.5839T>C (p.Tyr1947His) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002352121.2
Allele description [Variation Report for NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)]
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
PREDICTED: Homo sapiens RNA exonuclease 5 (REXO5), transcript variant X4, mRNA
PREDICTED: Homo sapiens RNA exonuclease 5 (REXO5), transcript variant X4, mRNAgi|2462551062|ref|XM_054314065.1|Nucleotide
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ZNF816 zinc finger protein 816 [Homo sapiens]
ZNF816 zinc finger protein 816 [Homo sapiens]Gene ID:125893Gene
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Gene Links for GEO Profiles (Select 126709584) (1)
Gene
-
Profile neighbors for GEO Profiles (Select 126709584) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 76313611) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024