NM_000124.4(ERCC6):c.1004del (p.Leu335fs) AND Cerebrooculofacioskeletal syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 18, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626193.4
Allele description [Variation Report for NM_000124.4(ERCC6):c.1004del (p.Leu335fs)]
NM_000124.4(ERCC6):c.1004del (p.Leu335fs)
Condition(s)
-
26S proteasome non-ATPase regulatory subunit 11 isoform X1 [Heterocephalus glabe...
26S proteasome non-ATPase regulatory subunit 11 isoform X1 [Heterocephalus glaber]gi|513018711|ref|XP_004870659.1|Protein
-
Homo sapiens sorbitol dehydrogenase (SORD), transcript variant 1, mRNA
Homo sapiens sorbitol dehydrogenase (SORD), transcript variant 1, mRNAgi|1519313169|ref|NM_003104.6|Nucleotide
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Last Updated: Dec 11, 2022