NM_001376.5(DYNC1H1):c.2989C>G (p.Pro997Ala) AND Charcot-Marie-Tooth disease axonal type 2O
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003643234.2
Allele description [Variation Report for NM_001376.5(DYNC1H1):c.2989C>G (p.Pro997Ala)]
NM_001376.5(DYNC1H1):c.2989C>G (p.Pro997Ala)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease axonal type 2O
- Synonyms:
- CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O; Charcot-Marie-Tooth disease, axonal, type 20; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013644; MedGen: C3280220; Orphanet: 284232; OMIM: 614228
-
AGENCOURT_69615143 NICHD_XGC_Emb10 Xenopus laevis cDNA clone IMAGE:8318808 5', m...
AGENCOURT_69615143 NICHD_XGC_Emb10 Xenopus laevis cDNA clone IMAGE:8318808 5', mRNA sequencegi|88892195|gnl|dbEST|36949976|gb|D 88.1|Nucleotide
-
AL659014 XGC-neurula Xenopus tropicalis cDNA clone TNeu046m14 5', mRNA sequence
AL659014 XGC-neurula Xenopus tropicalis cDNA clone TNeu046m14 5', mRNA sequencegi|38226266|gnl|dbEST|20328726|emb| 014.2|Nucleotide
-
AL658369 XGC-neurula Xenopus tropicalis cDNA clone TNeu043j20 5', mRNA sequence
AL658369 XGC-neurula Xenopus tropicalis cDNA clone TNeu043j20 5', mRNA sequencegi|38225761|gnl|dbEST|20328221|emb| 369.2|Nucleotide
-
DC162834 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst106...
DC162834 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst106e19 3', mRNA sequencegi|119070530|gnl|dbEST|43340729|dbj 2834.1|Nucleotide
-
DC164074 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst111...
DC164074 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst111e19 3', mRNA sequencegi|119141975|gnl|dbEST|43406929|dbj 4074.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024