NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) AND Lethal acantholytic epidermolysis bullosa
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000402482.5
Allele description [Variation Report for NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)]
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)
Condition(s)
-
Cichorieae ndhF-rpl32 intergenic spacer, partial sequence; and ribosomal protein...
Cichorieae ndhF-rpl32 intergenic spacer, partial sequence; and ribosomal protein L32 (rpl32) gene, partial cds; chloroplast.PopSet: 1050551267PopSet
-
Nucleotide Links for Gene (Select 116093) (11)
Nucleotide
-
nc72d11.r1 NCI_CGAP_Pr2 Homo sapiens cDNA clone IMAGE:782901, mRNA sequence
nc72d11.r1 NCI_CGAP_Pr2 Homo sapiens cDNA clone IMAGE:782901, mRNA sequencegi|2194608|gnl|dbEST|1112610|gb|AA4 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024