NM_003098.3(SNTA1):c.828G>A (p.Lys276=) AND Long QT syndrome 12
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Nov 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001001581.14
Allele description [Variation Report for NM_003098.3(SNTA1):c.828G>A (p.Lys276=)]
NM_003098.3(SNTA1):c.828G>A (p.Lys276=)
Condition(s)
-
Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/ps...
Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene), mRNA (cDNA clone MGC:97176 IMAGE:7262420), complete cdsgi|47480841|gb|BC069596.1|Nucleotide
-
Related gene-specific medical variations for Gene (Select 83715) (19)
ClinVar
-
txid170679[orgn] AND "strain 43 P 274"[All Fields] (4896)
Protein
-
Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 9, mRNA
Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 9, mRNAgi|1890327813|ref|NM_001167990.2|Nucleotide
-
txid910839[Organism:noexp] (1)
PopSet
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 1, 2024