NM_000171.4(GLRA1):c.1313A>G (p.Tyr438Cys) AND Hereditary hyperekplexia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003020728.3
Allele description [Variation Report for NM_000171.4(GLRA1):c.1313A>G (p.Tyr438Cys)]
NM_000171.4(GLRA1):c.1313A>G (p.Tyr438Cys)
Condition(s)
-
Mus musculus aspartate beta-hydroxylase domain containing 2 (Asphd2), transcript...
Mus musculus aspartate beta-hydroxylase domain containing 2 (Asphd2), transcript variant 5, mRNAgi|1257171116|ref|NM_001357014.1|Nucleotide
-
Mus musculus retention in endoplasmic reticulum sorting receptor 1 (Rer1), mRNA
Mus musculus retention in endoplasmic reticulum sorting receptor 1 (Rer1), mRNAgi|13385881|ref|NM_026395.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024