NM_001372044.2(SHANK3):c.2981A>C (p.Lys994Thr) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002738834.2
Allele description [Variation Report for NM_001372044.2(SHANK3):c.2981A>C (p.Lys994Thr)]
NM_001372044.2(SHANK3):c.2981A>C (p.Lys994Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
UI-M-BH2.1-apg-b-08-0-UI.r1 NIH_BMAP_M_S3.1 Mus musculus cDNA clone UI-M-BH2.1-a...
UI-M-BH2.1-apg-b-08-0-UI.r1 NIH_BMAP_M_S3.1 Mus musculus cDNA clone UI-M-BH2.1-apg-b-08-0-UI 5', mRNA sequencegi|19391652|gnl|dbEST|11634520|gb|B 00.1|Nucleotide
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Last Updated: Oct 8, 2024