NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003263953.2
Allele description [Variation Report for NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr)]
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
peptidase S41 [Elizabethkingia bruuniana]
peptidase S41 [Elizabethkingia bruuniana]gi|1154494965|gnl|PRJNA301708|AYC65 0|gb|AQX86233.1|Protein
-
A1Q1_04591 [Trichosporon asahii var. asahii CBS 2479]
A1Q1_04591 [Trichosporon asahii var. asahii CBS 2479]Gene ID:25988104Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024