NM_206933.4(USH2A):c.12114del (p.Tyr4039fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002549205.2
Allele description [Variation Report for NM_206933.4(USH2A):c.12114del (p.Tyr4039fs)]
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Conserved Domain Links for Protein (Select 2462517908) (1)
Conserved Domains
-
Profile neighbors for GEO Profiles (Select 132347050) (200)
GEO Profiles
-
txid434124[Organism:exp] (62)
SRA
-
Susceptible treated root (STR)
Susceptible treated root (STR)biosample
-
MAG: transcriptional regulator [Spirochaetes bacterium GWF1_51_8]
MAG: transcriptional regulator [Spirochaetes bacterium GWF1_51_8]gi|1088528400|gb|OHD57711.1||gnl|WG E|A2Y33_02910Protein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024