NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) AND Bethlem myopathy 1A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001520953.8
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)
-
Tuber melanosporum uncharacterized protein (GSTUM_00005791001), partial mRNA
Tuber melanosporum uncharacterized protein (GSTUM_00005791001), partial mRNAgi|2360313056|ref|XM_002837834.2|Nucleotide
-
IRF8 interferon regulatory factor 8 [Gallus gallus]
IRF8 interferon regulatory factor 8 [Gallus gallus]Gene ID:396385Gene
-
Chromosome neighbors for GEO Profiles (Select 98702567) (20)
GEO Profiles
-
Transcription factor-induced pluripotent stem cells
Transcription factor-induced pluripotent stem cellsAccession: GDS3842GEO DataSets
-
Related DataSets for GEO Profiles (Select 69907275) (1)
GEO DataSets
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024