NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=) AND not specified
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003488622.1
Allele description [Variation Report for NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=)]
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Distephanus nummulariifolius (0)
Nucleotide
-
Ictidomys tridecemlineatus isolate #75 contig097482, whole genome shotgun sequen...
Ictidomys tridecemlineatus isolate #75 contig097482, whole genome shotgun sequencegi|358132435|gb|AGTP01097482.1||gnl AGTP01|contig097482Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024