NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002409381.3
Allele description [Variation Report for NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu)]
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
XRCC6P1 X-ray repair cross complementing 6 pseudogene 1 [Homo sapiens]
XRCC6P1 X-ray repair cross complementing 6 pseudogene 1 [Homo sapiens]Gene ID:387703Gene
-
XRCC6P1 AND (alive[prop]) (1)
Gene
-
CYP24A1 cytochrome P450 family 24 subfamily A member 1 [Microcebus murinus]
CYP24A1 cytochrome P450 family 24 subfamily A member 1 [Microcebus murinus]Gene ID:105869419Gene
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Last Updated: May 1, 2024