NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) AND not specified
- Germline classification:
- Benign (6 submissions)
- Last evaluated:
- Feb 2, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000081018.31
Allele description [Variation Report for NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val)]
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
CSRNP3 cysteine and serine rich nuclear protein 3 [Homo sapiens]
CSRNP3 cysteine and serine rich nuclear protein 3 [Homo sapiens]Gene ID:80034Gene
-
Gene Links for GEO Profiles (Select 34574904) (1)
Gene
-
TSBP1 testis expressed basic protein 1 [Homo sapiens]
TSBP1 testis expressed basic protein 1 [Homo sapiens]Gene ID:10665Gene
-
Gene Links for GEO Profiles (Select 77634565) (1)
Gene
-
Related Structures (List) for Protein (Select 143811467) (5)
Structure
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Last Updated: Oct 8, 2024