NM_001395333.1(MTCL1):c.1946G>A (p.Arg649Gln) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002873007.2
Allele description [Variation Report for NM_001395333.1(MTCL1):c.1946G>A (p.Arg649Gln)]
NM_001395333.1(MTCL1):c.1946G>A (p.Arg649Gln)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Model organism or animal sample from Pantherophis guttatus
Model organism or animal sample from Pantherophis guttatusbiosample
-
SAMN03703947 (1)
SRA
-
Danio rerio glial fibrillary acidic protein (gfap), mRNA
Danio rerio glial fibrillary acidic protein (gfap), mRNAgi|66393074|ref|NM_131373.2|Nucleotide
-
ribosomal protein S2 (chloroplast) [Nasturtium officinale]
ribosomal protein S2 (chloroplast) [Nasturtium officinale]gi|139389085|ref|YP_001123803.1|Protein
-
transcription factor Dp-1a [Danio rerio]
transcription factor Dp-1a [Danio rerio]gi|47087295|ref|NP_998657.1|Protein
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Last Updated: May 1, 2024