NM_033380.3(COL4A5):c.3210T>A (p.Ile1070=) AND not provided
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 7, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001503333.6
Allele description [Variation Report for NM_033380.3(COL4A5):c.3210T>A (p.Ile1070=)]
NM_033380.3(COL4A5):c.3210T>A (p.Ile1070=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homo sapiens TBC1 domain family member 17 (TBC1D17), transcript variant 2, mRNA
Homo sapiens TBC1 domain family member 17 (TBC1D17), transcript variant 2, mRNAgi|1675128949|ref|NM_001168222.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024