NM_002693.3(POLG):c.3643+1G>A AND Progressive sclerosing poliodystrophy
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003463330.3
Allele description [Variation Report for NM_002693.3(POLG):c.3643+1G>A]
NM_002693.3(POLG):c.3643+1G>A
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
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qe62g09.x1 Soares_fetal_lung_NbHL19W Homo sapiens cDNA clone IMAGE:1743616 3', m...
qe62g09.x1 Soares_fetal_lung_NbHL19W Homo sapiens cDNA clone IMAGE:1743616 3', mRNA sequencegi|3743969|gnl|dbEST|1956509|gb|AI1 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024