NM_000190.4(HMBS):c.887dup (p.Ala297fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003557678.2
Allele description [Variation Report for NM_000190.4(HMBS):c.887dup (p.Ala297fs)]
NM_000190.4(HMBS):c.887dup (p.Ala297fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
cytochrome P450 307a1, partial [Exorista sorbillans]
cytochrome P450 307a1, partial [Exorista sorbillans]gi|2664562893|gb|WVH45124.1|Protein
-
phosphatidylinositol 4-kinase type 2-beta, partial [Vicugna pacos]
phosphatidylinositol 4-kinase type 2-beta, partial [Vicugna pacos]gi|970721968|ref|XP_015097007.1|Protein
-
cohesin subunit SA-2 isoform b [Homo sapiens]
cohesin subunit SA-2 isoform b [Homo sapiens]gi|112789530|ref|NP_001036216.1|Protein
-
Papio ursinus
Papio ursinusPapio ursinus genome sequencing project.BioProject
-
Mdh1 [Ostrinia nubilalis]
Mdh1 [Ostrinia nubilalis]Gene ID:135072675Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024