NM_002470.4(MYH3):c.4957-16G>C AND Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001775722.2
Allele description [Variation Report for NM_002470.4(MYH3):c.4957-16G>C]
NM_002470.4(MYH3):c.4957-16G>C
Condition(s)
- Name:
- Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A)
- Synonyms:
- MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT; Distal arthrogryposis type 8; Contractures, pterygia, and variable skeletal fusions syndrome 1A
- Identifiers:
- MONDO: MONDO:0008338; MedGen: C1867440; Orphanet: 65743; OMIM: 178110
-
LOC116920953 [Daphnia magna]
LOC116920953 [Daphnia magna]Gene ID:116920953Gene
-
Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Mus musc...
Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Mus musculus]Gene ID:210009Gene
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Last Updated: Sep 29, 2024