NM_004369.4(COL6A3):c.5224C>T (p.Arg1742Trp) AND Bethlem myopathy 1A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000687914.6
Allele description [Variation Report for NM_004369.4(COL6A3):c.5224C>T (p.Arg1742Trp)]
NM_004369.4(COL6A3):c.5224C>T (p.Arg1742Trp)
Condition(s)
-
Homo sapiens transient receptor potential cation channel, subfamily M, member 1 ...
Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), RefSeqGene on chromosome 15gi|284925109|ref|NG_016453.1|Nucleotide
-
DC308467 BRACE3 Homo sapiens cDNA clone BRACE3024302 5', mRNA sequence
DC308467 BRACE3 Homo sapiens cDNA clone BRACE3024302 5', mRNA sequencegi|146006420|gnl|dbEST|46499553|dbj 8467.1|Nucleotide
-
cyclic nucleotide-gated cation channel, partial [Rattus norvegicus]
cyclic nucleotide-gated cation channel, partial [Rattus norvegicus]gi|2642592|gb|AAB87065.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 17, 2024