NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) AND VARS2-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004547763.1
Allele description
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
Condition(s)
- Name:
- VARS2-related disorder
- Synonyms:
- VARS2-related disorders; VARS2-related condition
- Identifiers:
-
Homologene neighbors for GEO Profiles (Select 23490251) (0)
GEO Profiles
-
Profile neighbors for GEO Profiles (Select 23508398) (200)
GEO Profiles
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PubChem Same Substances for PubChem Compound (Select 157726746) (1)
PubChem Substance
-
Homo sapiens Janus kinase 2 (JAK2), transcript variant 1, mRNA
Homo sapiens Janus kinase 2 (JAK2), transcript variant 1, mRNAgi|223671934|ref|NM_004972.3|Nucleotide
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Gene Links for GEO Profiles (Select 23502522) (0)
Gene
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Last Updated: Jun 17, 2024