NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763058.3
Allele description [Variation Report for NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)]
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)
Condition(s)
-
cytochrome b, partial (mitochondrion) [Rhinolophus clivosus complex sp. 3 TD-201...
cytochrome b, partial (mitochondrion) [Rhinolophus clivosus complex sp. 3 TD-2019]gi|1735122985|gb|QEM21542.1|Protein
-
C20orf173 chromosome 20 open reading frame 173 [Homo sapiens]
C20orf173 chromosome 20 open reading frame 173 [Homo sapiens]Gene ID:140873Gene
-
Gene Links for Nucleotide (Select 2217334473) (1)
Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 19, 2024