NM_000310.4(PPT1):c.908C>T (p.Pro303Leu) AND Neuronal ceroid lipofuscinosis 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001037179.4
Allele description [Variation Report for NM_000310.4(PPT1):c.908C>T (p.Pro303Leu)]
NM_000310.4(PPT1):c.908C>T (p.Pro303Leu)
Condition(s)
- Name:
- Neuronal ceroid lipofuscinosis 1 (CLN1)
- Synonyms:
- CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET; CLN1 variable age at onset; Infantile CLN (type of CLN1); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009744; MedGen: C1850451; OMIM: 256730
-
Homo sapiens zinc finger protein 366 (ZNF366), mRNA
Homo sapiens zinc finger protein 366 (ZNF366), mRNAgi|1519245092|ref|NM_152625.3|Nucleotide
-
603026074F1 NIH_MGC_114 Homo sapiens cDNA clone IMAGE:5196258 5', mRNA sequence
603026074F1 NIH_MGC_114 Homo sapiens cDNA clone IMAGE:5196258 5', mRNA sequencegi|15744775|gnl|dbEST|9593951|gb|BI 7.1|Nucleotide
-
2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinone monooxygenase [Xanthomonas hawa...
2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinone monooxygenase [Xanthomonas hawaiiensis]gi|2580479244|gnl|PRJNA916509|PG878 0|gb|WNH44632.1|Protein
-
Nup205 [Mastomys coucha]
Nup205 [Mastomys coucha]Gene ID:116098720Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024