NM_025219.3(DNAJC5):c.*1643T>C AND Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
- Germline classification:
- Benign (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:
- RCV001137035.4
Allele description [Variation Report for NM_025219.3(DNAJC5):c.*1643T>C]
NM_025219.3(DNAJC5):c.*1643T>C
Condition(s)
- Name:
- Ceroid lipofuscinosis, neuronal, 4 (Kufs type) (CLN4)
- Synonyms:
- Ceroid lipofuscinosis neuronal 4B autosomal dominant; Kufs disease autosomal dominant; Ceroid lipofuscinosis neuronal Parry type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008083; MedGen: C1834207; Orphanet: 228343; Orphanet: 79262; OMIM: 162350
-
yjgA [Escherichia coli CFT073]
yjgA [Escherichia coli CFT073]Gene ID:1037382Gene
-
treC [Escherichia coli CFT073]
treC [Escherichia coli CFT073]Gene ID:1037372Gene
-
pmbA [Escherichia coli O157:H7 str. Sakai]
pmbA [Escherichia coli O157:H7 str. Sakai]Gene ID:913868Gene
-
ytfT galactofuranose ABC transporter putative membrane subunit YtfT [Escherichia...
ytfT galactofuranose ABC transporter putative membrane subunit YtfT [Escherichia coli str. K-12 substr. MG1655]Gene ID:948743Gene
-
fbp [Escherichia coli O157:H7 str. Sakai]
fbp [Escherichia coli O157:H7 str. Sakai]Gene ID:913877Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 24, 2023