NM_052883.3(TXNRD3):c.1468G>A (p.Ala490Thr) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004192629.1
Allele description [Variation Report for NM_052883.3(TXNRD3):c.1468G>A (p.Ala490Thr)]
NM_052883.3(TXNRD3):c.1468G>A (p.Ala490Thr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Chromosome neighbors for GEO Profiles (Select 19473917) (20)
GEO Profiles
-
Craniorachischisis
CraniorachischisisMedGen
-
Profile neighbors for GEO Profiles (Select 129884476) (11)
GEO Profiles
-
Taxonomy Links for Nucleotide (Select 2462533057) (1)
Taxonomy
-
Homo sapiens CD38 molecule (CD38), transcript variant 1, mRNA
Homo sapiens CD38 molecule (CD38), transcript variant 1, mRNAgi|1519243433|ref|NM_001775.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 26, 2024