NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn) AND Bethlem myopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001859591.5
Allele description [Variation Report for NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn)]
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn)
Condition(s)
-
GSE202142[ACCN] AND gsm[ETYP] (24)
GEO DataSets
-
Taxonomy Links for Nucleotide (Select 1039024164) (1)
Taxonomy
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Pacific flying fox faeces associated circular DNA virus-1 isolate Tbat_H_1180, c...
Pacific flying fox faeces associated circular DNA virus-1 isolate Tbat_H_1180, complete genomegi|992391414|gb|KT732821.1|Nucleotide
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LOC127821083 [Homo sapiens]
LOC127821083 [Homo sapiens]Gene ID:127821083Gene
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Conserved Domain Links for Protein (Select 395455071) (2)
Conserved Domains
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Last Updated: Apr 15, 2024