NM_017775.3(TTC19):c.-347C>A AND Mitochondrial complex III deficiency nuclear type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000292135.14
Allele description [Variation Report for NM_017775.3(TTC19):c.-347C>A]
NM_017775.3(TTC19):c.-347C>A
Condition(s)
-
Homo sapiens adaptor related protein complex 1 subunit beta 1 (AP1B1), transcrip...
Homo sapiens adaptor related protein complex 1 subunit beta 1 (AP1B1), transcript variant 7, mRNAgi|1811715286|ref|NM_001378565.1|Nucleotide
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Asteroideae internal transcribed spacer 1, partial sequence.
Asteroideae internal transcribed spacer 1, partial sequence.PopSet: 8132444PopSet
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Last Updated: Oct 8, 2024