NM_001003795.3(GTF2IRD2B):c.209C>T (p.Thr70Met) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004088102.1
Allele description [Variation Report for NM_001003795.3(GTF2IRD2B):c.209C>T (p.Thr70Met)]
NM_001003795.3(GTF2IRD2B):c.209C>T (p.Thr70Met)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Chain E, ATP SYNTHASE C CHAIN
Chain E, ATP SYNTHASE C CHAINgi|310689674|pdb|2XQU|EProtein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024