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:
-
Homo sapiens BICD cargo adaptor 1 (BICD1), transcript variant 15, mRNA
Homo sapiens BICD cargo adaptor 1 (BICD1), transcript variant 15, mRNAgi|2321695074|ref|NM_001413161.1|Nucleotide
-
protein bicaudal D homolog 1 isoform 3 [Homo sapiens]
protein bicaudal D homolog 1 isoform 3 [Homo sapiens]gi|1237937678|ref|NP_001341115.1|Protein
-
Homo sapiens BICD cargo adaptor 1 (BICD1), transcript variant 5, mRNA
Homo sapiens BICD cargo adaptor 1 (BICD1), transcript variant 5, mRNAgi|1674986307|ref|NM_001354188.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024