NM_001844.5(COL2A1):c.2928G>A (p.Leu976=) AND not provided
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002215617.5
Allele description [Variation Report for NM_001844.5(COL2A1):c.2928G>A (p.Leu976=)]
NM_001844.5(COL2A1):c.2928G>A (p.Leu976=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
dai99a07.y1 NICHD_XGC_Ov1 Xenopus laevis cDNA clone IMAGE:5048364 5' similar to ...
dai99a07.y1 NICHD_XGC_Ov1 Xenopus laevis cDNA clone IMAGE:5048364 5' similar to TR:Q9QZP0 Q9QZP0 NEPHROCYSTIN. [1], mRNA sequencegi|17925876|gnl|dbEST|10655929|gb|B 36.1|Nucleotide
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Last Updated: Feb 20, 2024