NM_206933.4(USH2A):c.12063G>A (p.Val4021=) AND not provided
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003569799.1
Allele description
NM_206933.4(USH2A):c.12063G>A (p.Val4021=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
PREDICTED: Homo sapiens AT-hook DNA binding motif containing 1 (AHDC1), transcri...
PREDICTED: Homo sapiens AT-hook DNA binding motif containing 1 (AHDC1), transcript variant X9, mRNAgi|2217266548|ref|XM_047418013.1|Nucleotide
-
deoxyguanosinetriphosphate triphosphohydrolase [Isoptericola variabilis]
deoxyguanosinetriphosphate triphosphohydrolase [Isoptericola variabilis]gi|1992224652|ref|WP_204370850.1|Protein
-
transcription factor Gibbin isoform X1 [Homo sapiens]
transcription factor Gibbin isoform X1 [Homo sapiens]gi|2217266574|ref|XP_047273979.1|Protein
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Last Updated: Feb 20, 2024