NM_004415.4(DSP):c.8350T>C (p.Ser2784Pro) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001178209.3
Allele description [Variation Report for NM_004415.4(DSP):c.8350T>C (p.Ser2784Pro)]
NM_004415.4(DSP):c.8350T>C (p.Ser2784Pro)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
LPIN2 [Balearica regulorum gibbericeps]
LPIN2 [Balearica regulorum gibbericeps]Gene ID:104629640Gene
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Panama AND "Maxillaria jostii" (0)
Nucleotide
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c telephone symbolleft angle bracket, double-DolphinOTC99right an... (0)
c telephone symbolleft angle bracket, double-DolphinOTC99right angle bracket, doublemusic noteSearchMedGen
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c -DolphinOTC99 (1748)
MedGen
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c left angle bracket, double-DolphinOTC99right angle bracket, dou... (0)
c left angle bracket, double-DolphinOTC99right angle bracket, doubleSearchMedGen
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Last Updated: Feb 20, 2024