NM_003739.6(AKR1C3):c.48G>A (p.Met16Ile) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004173740.1
Allele description [Variation Report for NM_003739.6(AKR1C3):c.48G>A (p.Met16Ile)]
NM_003739.6(AKR1C3):c.48G>A (p.Met16Ile)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Concise Conserved Domain Links for Protein (Select 338797770) (2)
Conserved Domains
-
PREDICTED: Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript va...
PREDICTED: Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant X7, mRNAgi|2217317816|ref|XM_011526201.3|Nucleotide
-
Homologene neighbors for GEO Profiles (Select 7623599) (0)
GEO Profiles
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Last Updated: May 12, 2024