NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) AND not specified
- Germline classification:
- Benign (6 submissions)
- Last evaluated:
- Jul 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000080994.25
Allele description [Variation Report for NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=)]
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
low density lipoprotein receptor-related protein 11 [Homo sapiens]
low density lipoprotein receptor-related protein 11 [Homo sapiens]gi|31543101|ref|NP_116221.2|Protein
-
SRX3009247 (1)
SRA
-
Profile neighbors for GEO Profiles (Select 77893455) (20)
GEO Profiles
-
Profile neighbors for GEO Profiles (Select 77892891) (11)
GEO Profiles
-
Schizosaccharomyces pombe actin binding methyltransferase (trm141), mRNA
Schizosaccharomyces pombe actin binding methyltransferase (trm141), mRNAgi|2745685145|ref|NM_001021665.3|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024