NCBI36/hg18 1q42.12-44(chr1:223134347-247179289)x3 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000451057.2
Allele description
NCBI36/hg18 1q42.12-44(chr1:223134347-247179289)x3
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
-
PREDICTED: Homo sapiens mitochondrial ribosomal protein L52 (MRPL52), transcript...
PREDICTED: Homo sapiens mitochondrial ribosomal protein L52 (MRPL52), transcript variant X3, mRNAgi|2217296245|ref|XM_047430919.1|Nucleotide
-
PREDICTED: Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5)...
PREDICTED: Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant X1, mRNAgi|2462565837|ref|XM_054321226.1|Nucleotide
-
Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcrip...
Homo sapiens FXYD domain containing ion transport regulator 5 (FXYD5), transcript variant 1, mRNAgi|1676317078|ref|NM_144779.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022