NM_001008212.2(OPTN):c.1204_1210del (p.Asn401_Asn402insTer) AND OPTN-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004536679.1
Allele description [Variation Report for NM_001008212.2(OPTN):c.1204_1210del (p.Asn401_Asn402insTer)]
NM_001008212.2(OPTN):c.1204_1210del (p.Asn401_Asn402insTer)
Condition(s)
- Name:
- OPTN-related disorder
- Synonyms:
- OPTN-Related Disorders; OPTN-related condition
- Identifiers:
-
K-EST0040658 S2SNU668s1 Homo sapiens cDNA clone S2SNU668s1-14-A03 5', mRNA seque...
K-EST0040658 S2SNU668s1 Homo sapiens cDNA clone S2SNU668s1-14-A03 5', mRNA sequencegi|19089770|gnl|dbEST|11341081|gb|B 55.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024