NM_003560.4(PLA2G6):c.2035-7C>T AND Infantile neuroaxonal dystrophy
- Germline classification:
- Likely benign (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:
- RCV003508564.2
Allele description [Variation Report for NM_003560.4(PLA2G6):c.2035-7C>T]
NM_003560.4(PLA2G6):c.2035-7C>T
Condition(s)
-
Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), mRNA
Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), mRNAgi|75812964|ref|NM_007347.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024