NM_133443.4(GPT2):c.981C>T (p.Tyr327=) AND not provided
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004575047.3
Allele description
NM_133443.4(GPT2):c.981C>T (p.Tyr327=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
PREDICTED: Homo sapiens family with sequence similarity 168 member B (FAM168B), ...
PREDICTED: Homo sapiens family with sequence similarity 168 member B (FAM168B), transcript variant X1, mRNAgi|2462570045|ref|XM_054340504.1|Nucleotide
-
xc19e12.x1 NCI_CGAP_Co19 Homo sapiens cDNA clone IMAGE:2584750 3' similar to con...
xc19e12.x1 NCI_CGAP_Co19 Homo sapiens cDNA clone IMAGE:2584750 3' similar to contains element LTR5 repetitive element, mRNA sequencegi|6034754|gnl|dbEST|3216905|gb|AW0 .1|Nucleotide
-
Gangrene
GangreneDeath and putrefaction of tissue usually due to a loss of blood supply.<br/>MeSH
-
Skin Ulcer
Skin UlcerAn ULCER of the skin and underlying tissues.<br/>MeSH
-
Mixed Connective Tissue Disease
Mixed Connective Tissue DiseaseA syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. The disease is differentially characterized...<br/>Year introduced: 1979MeSH
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Last Updated: Aug 4, 2024