NM_000137.4(FAH):c.81+10G>A AND Tyrosinemia type I
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001416866.6
Allele description [Variation Report for NM_000137.4(FAH):c.81+10G>A]
NM_000137.4(FAH):c.81+10G>A
Condition(s)
- Name:
- Tyrosinemia type I (TYRSN1)
- Synonyms:
- Tyrosinemia type 1; Hepatorenal tyrosinemia; FAH deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010161; MedGen: C0268490; Orphanet: 882; OMIM: 276700
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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: Mar 5, 2024