NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp) AND Hyperekplexia 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001782203.4
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)
- Name:
- Hyperekplexia 1 (STHE)
- Synonyms:
- Startle disease, familial; Startle reaction, exaggerated; Stiff-baby syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007868; MedGen: C4551954; Orphanet: 3197; OMIM: 149400
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Candidate division MSBL1 archaeon SCGC-AAA259I09, whole genome shotgun sequencin...
Candidate division MSBL1 archaeon SCGC-AAA259I09, whole genome shotgun sequencing projectgi|985667138|gb|LHXR00000000.1|LHXR 000Nucleotide
-
Candidate division MSBL1 archaeon SCGC-AAA259E17, whole genome shotgun sequencin...
Candidate division MSBL1 archaeon SCGC-AAA259E17, whole genome shotgun sequencing projectgi|985661694|gb|LHXN00000000.1|LHXN 000Nucleotide
-
Candidate division MSBL1 archaeon SCGC-AAA259E22, whole genome shotgun sequencin...
Candidate division MSBL1 archaeon SCGC-AAA259E22, whole genome shotgun sequencing projectgi|985662090|gb|LHXP00000000.1|LHXP 000Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024