NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala) AND Brugada syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000474235.11
Allele description [Variation Report for NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala)]
NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala)
Condition(s)
- Name:
- Brugada syndrome
- Synonyms:
- Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144
-
Chain H, Inner kinetochore subunit MCM16
Chain H, Inner kinetochore subunit MCM16gi|1653017425|pdb|6OUA|HProtein
-
Synthetic construct clone IMAGE:5335317 ARP3 actin-related protein 3 homolog (ac...
Synthetic construct clone IMAGE:5335317 ARP3 actin-related protein 3 homolog (actr3) gene, partial cdsgi|1270533324|gb|MG132718.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 16, 2024