NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001857007.5
Allele description [Variation Report for NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly)]
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly)
Condition(s)
- Name:
- Congenital myotonia, autosomal recessive form
- Synonyms:
- Myotonia congenita autosomal recessive; Becker disease; Myotonia generalized; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009715; MedGen: C0751360; Orphanet: 614; OMIM: 255700
-
OLIG1 oligodendrocyte transcription factor 1 [Homo sapiens]
OLIG1 oligodendrocyte transcription factor 1 [Homo sapiens]Gene ID:116448Gene
-
BX717041 XGC-tadpole Xenopus tropicalis cDNA clone TTpA026a19 3', mRNA sequence
BX717041 XGC-tadpole Xenopus tropicalis cDNA clone TTpA026a19 3', mRNA sequencegi|38389716|gnl|dbEST|20434175|emb| 041.1|Nucleotide
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AJ14G04P Xenla_13LiCl Xenopus laevis cDNA clone AGL_14G04 3' similar to gene chg...
AJ14G04P Xenla_13LiCl Xenopus laevis cDNA clone AGL_14G04 3' similar to gene chgr21 medium similarity to Heterogeneous nuclear ribonucleoprotein A0 (hnRNP A0), mRNA sequencegi|56799271|gnl|dbEST|25994446|gb|C 02.1|Nucleotide
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LOC18770061 [Prunus persica]
LOC18770061 [Prunus persica]Gene ID:18770061Gene
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Last Updated: Sep 29, 2024