NM_002230.4(JUP):c.1653+12G>A AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002097736.6
Allele description [Variation Report for NM_002230.4(JUP):c.1653+12G>A]
NM_002230.4(JUP):c.1653+12G>A
Condition(s)
- Name:
- Naxos disease (NXD)
- Synonyms:
- KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011017; MedGen: C1832600; Orphanet: 34217; OMIM: 601214
-
Erianthus AND fulvus* AND 1[s_discriminator] (0)
dbGaP
-
MULTISPECIES: dihydroxy-acid dehydratase [Bacillus]
MULTISPECIES: dihydroxy-acid dehydratase [Bacillus]gi|494651580|ref|WP_007409524.1|Protein
-
Martensia albida voucher JN130305-1 cytochrome oxidase subunit 1 (COI) gene, par...
Martensia albida voucher JN130305-1 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|906850877|gb|KP019295.1|Nucleotide
-
methionine synthase [Escherichia coli]
methionine synthase [Escherichia coli]gi|304910|gb|AAA02995.1|Protein
-
T23C-2b
T23C-2bbiosample
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Last Updated: Sep 29, 2024