NM_015473.4(HEATR5A):c.6022C>T (p.Arg2008Cys) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004260979.1
Allele description [Variation Report for NM_015473.4(HEATR5A):c.6022C>T (p.Arg2008Cys)]
NM_015473.4(HEATR5A):c.6022C>T (p.Arg2008Cys)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Human DNA sequence from PCR product PCR_RP11_AC092118_1 on chromosome 16
Human DNA sequence from PCR product PCR_RP11_AC092118_1 on chromosome 16gi|357196686|emb|FO082293.1|Nucleotide
-
PREDICTED: Colossoma macropomum phosphatidylinositol 4-kinase, catalytic, alpha ...
PREDICTED: Colossoma macropomum phosphatidylinositol 4-kinase, catalytic, alpha b (pi4kab), transcript variant X1, mRNAgi|1916991021|ref|XM_036578900.1|Nucleotide
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Last Updated: Oct 13, 2024