NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) AND Progressive familial heart block, type 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 8, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001146623.12
Allele description [Variation Report for NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)]
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
Condition(s)
- Name:
- Progressive familial heart block, type 1A (PFHB1A)
- Synonyms:
- HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; Heart block progressive familial type 1; Cardiac conduction defect progressive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007240; MedGen: C1879286; Orphanet: 871; OMIM: 113900
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Homo sapiens DEAH-box helicase 36 (DHX36), transcript variant 2, mRNA
Homo sapiens DEAH-box helicase 36 (DHX36), transcript variant 2, mRNAgi|1890274553|ref|NM_001114397.2|Nucleotide
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CAAX prenyl protease 2 isoform X3 [Rattus norvegicus]
CAAX prenyl protease 2 isoform X3 [Rattus norvegicus]gi|1958646410|ref|XP_038935311.1|Protein
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Taxonomy Links for PopSet (Select 1891133866) (9)
Taxonomy
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Euphonia affinis affinis voucher MZFC:Y408 192 NADH dehydrogenase subunit 2 (ND2...
Euphonia affinis affinis voucher MZFC:Y408 192 NADH dehydrogenase subunit 2 (ND2) gene, partial cds; mitochondrialgi|1891133904|gb|MT452165.1|Nucleotide
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Last Updated: Oct 13, 2024