NM_000171.4(GLRA1):c.1181C>G (p.Pro394Arg) AND Hyperekplexia 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001044575.6
Allele description [Variation Report for NM_000171.4(GLRA1):c.1181C>G (p.Pro394Arg)]
NM_000171.4(GLRA1):c.1181C>G (p.Pro394Arg)
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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putative 6-hydroxy-D-nicotine oxidase [Glarea lozoyensis 74030]
putative 6-hydroxy-D-nicotine oxidase [Glarea lozoyensis 74030]gi|361129494|gb|EHL01400.1||gnl|WGS |M7I_2614Protein
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TSA: Parischnogaster nigricans s6277_L_20632_0_a_42_0_l_3242 transcribed RNA seq...
TSA: Parischnogaster nigricans s6277_L_20632_0_a_42_0_l_3242 transcribed RNA sequencegi|1163518548|gb|GBMW01026392.1||gn :GBMW01|s6277_L_20632_0_a_42_0_l_3242Nucleotide
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TSA: Parischnogaster nigricans s6261_L_20525_0_a_13_2_l_2337 transcribed RNA seq...
TSA: Parischnogaster nigricans s6261_L_20525_0_a_13_2_l_2337 transcribed RNA sequencegi|1163518565|gb|GBMW01026375.1||gn :GBMW01|s6261_L_20525_0_a_13_2_l_2337Nucleotide
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TSA: Parischnogaster nigricans s6327_L_20935_0_a_4_0_l_1058 transcribed RNA sequ...
TSA: Parischnogaster nigricans s6327_L_20935_0_a_4_0_l_1058 transcribed RNA sequencegi|1163518492|gb|GBMW01026448.1||gn :GBMW01|s6327_L_20935_0_a_4_0_l_1058Nucleotide
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TSA: Parischnogaster nigricans s6292_L_20680_0_a_10_0_l_1535 transcribed RNA seq...
TSA: Parischnogaster nigricans s6292_L_20680_0_a_10_0_l_1535 transcribed RNA sequencegi|1163518531|gb|GBMW01026409.1||gn :GBMW01|s6292_L_20680_0_a_10_0_l_1535Nucleotide
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Last Updated: Sep 29, 2024