NM_002653.5(PITX1):c.388G>A (p.Glu130Lys) AND Clubfoot
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2008
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000007934.7
Allele description [Variation Report for NM_002653.5(PITX1):c.388G>A (p.Glu130Lys)]
NM_002653.5(PITX1):c.388G>A (p.Glu130Lys)
Condition(s)
- Name:
- Clubfoot
- Synonyms:
- Talipes equinovarus; Congenital Talipes Equinovarus; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007342; MedGen: C0009081; Orphanet: 199315; OMIM: 119800; Human Phenotype Ontology: HP:0001762
-
tyrosinase, partial [Nanorana sp. C SH-2019]
tyrosinase, partial [Nanorana sp. C SH-2019]gi|1799735830|gb|QHN70644.1|Protein
-
cytochrome oxidase subunit I, partial (mitochondrion) [Nanorana sp. C SH-2019]
cytochrome oxidase subunit I, partial (mitochondrion) [Nanorana sp. C SH-2019]gi|1799734668|gb|QHN70338.1|Protein
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receptor-type tyrosine-protein phosphatase S isoform X17 [Homo sapiens]
receptor-type tyrosine-protein phosphatase S isoform X17 [Homo sapiens]gi|2462566643|ref|XP_054177598.1|Protein
-
Oryza rufipogon isolate Y476 chromosome 7
Oryza rufipogon isolate Y476 chromosome 7gi|2731949444|gb|CP154936.1|Nucleotide
-
Pooideae trnQ-rps16 intergenic spacer region, partial sequence; chloroplast.
Pooideae trnQ-rps16 intergenic spacer region, partial sequence; chloroplast.PopSet: 919018969PopSet
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Last Updated: Sep 16, 2024