NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) 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:
- RCV001147623.12
Allele description [Variation Report for NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)]
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
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
-
delta(12)-acyl-lipid-desaturase-like [Carya illinoinensis]
delta(12)-acyl-lipid-desaturase-like [Carya illinoinensis]gi|2082484273|ref|XP_042956203.1|Protein
-
LOC119614528 [Lucilia sericata]
LOC119614528 [Lucilia sericata]Gene ID:119614528Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024