NM_000388.4(CASR):c.416T>C (p.Ile139Thr) AND Neonatal severe primary hyperparathyroidism
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001542562.10
Allele description [Variation Report for NM_000388.4(CASR):c.416T>C (p.Ile139Thr)]
NM_000388.4(CASR):c.416T>C (p.Ile139Thr)
Condition(s)
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chromosome partitioning protein ParB [Pseudomonas sp. KBS0707]
chromosome partitioning protein ParB [Pseudomonas sp. KBS0707]gi|1712810959|gnl|PRJNA539822|FFH21 35|gb|QDV98509.1|Protein
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Barnebydendron riedelii cytochrome oxidase subunit I (cox1) gene, partial cds; m...
Barnebydendron riedelii cytochrome oxidase subunit I (cox1) gene, partial cds; mitochondrialgi|759083609|gb|KP058511.1|Nucleotide
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Barnebydendron riedelii voucher K:Lewis 1224 trnH-psbA intergenic spacer region,...
Barnebydendron riedelii voucher K:Lewis 1224 trnH-psbA intergenic spacer region, partial sequence; chloroplastgi|1810958474|gb|MN992877.1|Nucleotide
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Barnebydendron riedelii voucher K:Lewis 1615 ribosomal protein L16 (rpL16) gene,...
Barnebydendron riedelii voucher K:Lewis 1615 ribosomal protein L16 (rpL16) gene, introngi|1389161836|gb|MG949400.1|Nucleotide
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Barnebydendron riedelii voucher No. 1953-35501, Brammall (K) tRNA-Lys (trnK) gen...
Barnebydendron riedelii voucher No. 1953-35501, Brammall (K) tRNA-Lys (trnK) gene, partial sequence; and maturase K (matK) gene, complete cds; chloroplastgi|183528906|gb|EU361868.1|Nucleotide
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Last Updated: Sep 16, 2024