NM_001166114.2(PNPLA6):c.3817-6C>G AND Hereditary spastic paraplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001848580.3
Allele description [Variation Report for NM_001166114.2(PNPLA6):c.3817-6C>G]
NM_001166114.2(PNPLA6):c.3817-6C>G
Condition(s)
-
WT_bound_neg_VS_WT_bound_pos_R4
WT_bound_neg_VS_WT_bound_pos_R4biosample
-
Homo sapiens guanine deaminase (GDA), transcript variant 2, mRNA
Homo sapiens guanine deaminase (GDA), transcript variant 2, mRNAgi|1677500350|ref|NM_004293.5|Nucleotide
-
cytochrome oxidase subunit I, partial (mitochondrion) [Pyrilia haematotis]
cytochrome oxidase subunit I, partial (mitochondrion) [Pyrilia haematotis]gi|50981587|gb|AAT91570.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023