NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp) AND Hereditary hyperekplexia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002034594.4
Allele description [Variation Report for NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp)]
NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp)
Condition(s)
-
Candidate division MSBL1 archaeon SCGC-AAA259I07, whole genome shotgun sequencin...
Candidate division MSBL1 archaeon SCGC-AAA259I07, whole genome shotgun sequencing projectgi|985663926|gb|LHXQ00000000.1|LHXQ 000Nucleotide
-
Candidate division MSBL1 archaeon SCGC-AAA385D11, whole genome shotgun sequencin...
Candidate division MSBL1 archaeon SCGC-AAA385D11, whole genome shotgun sequencing projectgi|985678412|gb|LHYK00000000.1|LHYK 000Nucleotide
-
Candidate division MSBL1 archaeon SCGC-AAA382N08, whole genome shotgun sequencin...
Candidate division MSBL1 archaeon SCGC-AAA382N08, whole genome shotgun sequencing projectgi|985678945|gb|LHYJ00000000.1|LHYJ 000Nucleotide
-
uncharacterized protein YALI1_E05833g [Yarrowia lipolytica]
uncharacterized protein YALI1_E05833g [Yarrowia lipolytica]gi|2749601405|ref|XP_503562.2|Protein
-
unnamed protein product [Staphylococcus haemolyticus JCSC1435]
unnamed protein product [Staphylococcus haemolyticus JCSC1435]gi|68445822|dbj|BAE03406.1|Protein
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Last Updated: Sep 29, 2024