NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His) AND Paroxysmal extreme pain disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001135932.4
Allele description [Variation Report for NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His)]
NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His)
Condition(s)
-
Y Mok Uong elephants (0)
MeSH
-
rs121913079 (1)
ClinVar
-
Homo sapiens aldo-keto reductase family 7 like (gene/pseudogene) (AKR7L), transc...
Homo sapiens aldo-keto reductase family 7 like (gene/pseudogene) (AKR7L), transcript variant 1, mRNAgi|1139695539|ref|NM_001348421.1|Nucleotide
-
PREDICTED: Mus musculus RIMS binding protein 2 (Rimbp2), transcript variant X7, ...
PREDICTED: Mus musculus RIMS binding protein 2 (Rimbp2), transcript variant X7, mRNAgi|1907163091|ref|XM_006504295.5|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 30, 2023