NM_018929.3(PCDHGC5):c.1843G>A (p.Ala615Thr) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004133311.1
Allele description [Variation Report for NM_018929.3(PCDHGC5):c.1843G>A (p.Ala615Thr)]
NM_018929.3(PCDHGC5):c.1843G>A (p.Ala615Thr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: Chanos chanos gamma-aminobutyric acid type A receptor beta3 subunit (...
PREDICTED: Chanos chanos gamma-aminobutyric acid type A receptor beta3 subunit (gabrb3), transcript variant X3, mRNAgi|1741387304|ref|XM_030792053.1|Nucleotide
-
Chain D, ATP SYNTHASE C CHAIN
Chain D, ATP SYNTHASE C CHAINgi|310689673|pdb|2XQU|DProtein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024