NM_005261.4(GEM):c.728G>A (p.Arg243Gln) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004626885.1
Allele description [Variation Report for NM_005261.4(GEM):c.728G>A (p.Arg243Gln)]
NM_005261.4(GEM):c.728G>A (p.Arg243Gln)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: Homo sapiens S100 calcium binding protein A13 (S100A13), transcript v...
PREDICTED: Homo sapiens S100 calcium binding protein A13 (S100A13), transcript variant X5, mRNAgi|2462512329|ref|XM_054338118.1|Nucleotide
-
Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transc...
Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 22, non-coding RNAgi|1890393259|ref|NR_148240.2|Nucleotide
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Synura cornuta]
cytochrome oxidase subunit 1, partial (mitochondrion) [Synura cornuta]gi|1812395764|gb|QID57562.1|Protein
-
protein S100-A13 isoform X2 [Homo sapiens]
protein S100-A13 isoform X2 [Homo sapiens]gi|2462512338|ref|XP_054194097.1|Protein
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Last Updated: Aug 11, 2024