NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) AND Cockayne syndrome type 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000385102.5
Allele description [Variation Report for NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=)]
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=)
Condition(s)
-
cytochrome b (mitochondrion) [Tylomelania abendanoni]
cytochrome b (mitochondrion) [Tylomelania abendanoni]gi|2704297507|gb|WXX01387.1|Protein
-
NADH dehydrogenase subunit 1 (mitochondrion) [Tylomelania marwotoae]
NADH dehydrogenase subunit 1 (mitochondrion) [Tylomelania marwotoae]gi|2704297709|gb|WXX01488.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024