NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) AND Cerebrooculofacioskeletal syndrome 1
- Germline classification:
- Uncertain significance (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:
- RCV000348563.5
Allele description [Variation Report for NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser)]
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser)
Condition(s)
-
Katanin p80 (WD repeat containing) subunit B 1 [Danio rerio]
Katanin p80 (WD repeat containing) subunit B 1 [Danio rerio]gi|28838730|gb|AAH47819.1|Protein
-
CR419279 XGC-tailbud Xenopus tropicalis cDNA clone TTbA060e17 5', mRNA sequence
CR419279 XGC-tailbud Xenopus tropicalis cDNA clone TTbA060e17 5', mRNA sequencegi|48912687|gnl|dbEST|23783281|emb| 279.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024