NM_005932.4(MIPEP):c.1970+2T>A AND Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001797815.1
Allele description [Variation Report for NM_005932.4(MIPEP):c.1970+2T>A]
NM_005932.4(MIPEP):c.1970+2T>A
Condition(s)
-
Human centromere protein-A (CENP-A) mRNA, complete cds
Human centromere protein-A (CENP-A) mRNA, complete cdsgi|602413|gb|U14518.1|HSU14518Nucleotide
-
Homo sapiens E2F transcription factor 2, mRNA (cDNA clone MGC:61488 IMAGE:617018...
Homo sapiens E2F transcription factor 2, mRNA (cDNA clone MGC:61488 IMAGE:6170186), complete cdsgi|31657161|gb|BC053676.1|Nucleotide
-
Mus musculus alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (Adh7),...
Mus musculus alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (Adh7), mRNAgi|6752983|ref|NM_009626.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024