NM_000138.5(FBN1):c.6042TGA[1] (p.Asp2015del) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001269998.2
Allele description [Variation Report for NM_000138.5(FBN1):c.6042TGA[1] (p.Asp2015del)]
NM_000138.5(FBN1):c.6042TGA[1] (p.Asp2015del)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homo sapiens leucine rich melanocyte differentiation associated (LRMDA), transcr...
Homo sapiens leucine rich melanocyte differentiation associated (LRMDA), transcript variant 2, mRNAgi|1890327888|ref|NM_032024.5|Nucleotide
-
Homo sapiens leucine rich melanocyte differentiation associated (LRMDA), RefSeqG...
Homo sapiens leucine rich melanocyte differentiation associated (LRMDA), RefSeqGene on chromosome 10gi|2310188950|ref|NG_042180.2|Nucleotide
-
Rattus norvegicus nuclear factor of kappa light polypeptide gene enhancer in B-c...
Rattus norvegicus nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha, mRNA (cDNA clone MGC:188827 IMAGE:6890357), complete cdsgi|187469728|gb|BC166886.1|Nucleotide
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Last Updated: Feb 4, 2024