NM_001031715.3(IQCH):c.1010T>G (p.Leu337Arg) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004319905.1
Allele description [Variation Report for NM_001031715.3(IQCH):c.1010T>G (p.Leu337Arg)]
NM_001031715.3(IQCH):c.1010T>G (p.Leu337Arg)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
deoxyguanosine kinase, mitochondrial isoform X3 [Homo sapiens]
deoxyguanosine kinase, mitochondrial isoform X3 [Homo sapiens]gi|2217326158|ref|XP_047299543.1|Protein
-
PREDICTED: Homo sapiens SR-related CTD associated factor 11 (SCAF11), transcript...
PREDICTED: Homo sapiens SR-related CTD associated factor 11 (SCAF11), transcript variant X13, mRNAgi|2462535626|ref|XM_054373829.1|Nucleotide
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Last Updated: Oct 13, 2024