NM_002693.3(POLG):c.3451C>T (p.Leu1151=) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Dec 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000758384.9
Allele description [Variation Report for NM_002693.3(POLG):c.3451C>T (p.Leu1151=)]
NM_002693.3(POLG):c.3451C>T (p.Leu1151=)
Condition(s)
- Name:
- Progressive sclerosing poliodystrophy (MTDPS4A)
- Synonyms:
- Alpers disease; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers progressive infantile poliodystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008758; MedGen: C0205710; Orphanet: 726; OMIM: 203700
-
Mus musculus calmegin (Clgn), transcript variant 1, mRNA
Mus musculus calmegin (Clgn), transcript variant 1, mRNAgi|1046552718|ref|NM_009904.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024