NM_015139.3(SLC35D1):c.31C>T (p.Arg11Trp) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004672595.1
Allele description [Variation Report for NM_015139.3(SLC35D1):c.31C>T (p.Arg11Trp)]
NM_015139.3(SLC35D1):c.31C>T (p.Arg11Trp)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens eukaryotic translation initiation factor 2 subunit gamma (EIF2S3), ...
Homo sapiens eukaryotic translation initiation factor 2 subunit gamma (EIF2S3), mRNAgi|1519245340|ref|NM_001415.4|Nucleotide
-
PREDICTED: Homo sapiens TBC1 domain family member 4 (TBC1D4), transcript variant...
PREDICTED: Homo sapiens TBC1 domain family member 4 (TBC1D4), transcript variant X3, mRNAgi|2462538511|ref|XM_054375230.1|Nucleotide
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Last Updated: Aug 11, 2024