NM_001386393.1(PANK2):c.1082+20C>T AND Pigmentary pallidal degeneration
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003611938.2
Allele description [Variation Report for NM_001386393.1(PANK2):c.1082+20C>T]
NM_001386393.1(PANK2):c.1082+20C>T
Condition(s)
- Name:
- Pigmentary pallidal degeneration (NBIA1)
- Synonyms:
- PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET; Pantothenate kinase-associated neurodegeneration; Neuroaxonal dystrophy, late infantile; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009319; MedGen: C0018523; Orphanet: 157850; OMIM: 234200
-
MHC class II antigen, partial [Ursus thibetanus mupinensis]
MHC class II antigen, partial [Ursus thibetanus mupinensis]gi|2252558199|gb|USC27784.1|Protein
-
CBWN17077.g1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8922167 3', m...
CBWN17077.g1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8922167 3', mRNA sequencegi|133801874|gnl|dbEST|45231478|gb| 518.1|Nucleotide
-
AGENCOURT_19147856 NICHD_XGC_Te2 Xenopus laevis cDNA clone IMAGE:7211220 5', mRN...
AGENCOURT_19147856 NICHD_XGC_Te2 Xenopus laevis cDNA clone IMAGE:7211220 5', mRNA sequencegi|43390955|gnl|dbEST|21713568|gb|C 82.1|Nucleotide
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Last Updated: Sep 29, 2024