NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys) AND Progressive familial heart block, type 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001148681.12
Allele description [Variation Report for NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys)]
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys)
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
-
calcium activated chloride channel 4 [Homo sapiens]
calcium activated chloride channel 4 [Homo sapiens]gi|6912310|ref|NP_036260.1|Protein
-
Taxonomy Links for BioSample (Select 5391705) (1)
Taxonomy
-
Mycoplasmoides pneumoniae strain 303 303-2, whole genome shotgun sequence
Mycoplasmoides pneumoniae strain 303 303-2, whole genome shotgun sequencegi|1261488292|gb|MJIW01000002.1||gn :MJIW01|303-2Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024